Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: delins from 2102 to 2104
AAAGAAGCAGATATTCACAAACACA GTT GCTAGGTTTGCTGCAGATCTTGCTG
AAAGAAGCAGATATTCACAAACACA TGG GCTAGGTTTGCTGCAGATCTTGCTG
View original variant in UCSC Genome Browser
(Not for use in LSDBs in case of protein-coding transcripts).
NM_016248.3:n.2102_2104delinsTGG
NM_016248.3(AKAP11_i001):p.(Val643Trp)
1 MATFRNNHMK TKASVRKSFS EDVFQSVKSL LQSQKELCSV TAEDCLQQDE HANLTEVTFL
61 GFNEETDAAH IQDLAAVSLE LPDILNSLHF CSLNENEIIC MKNINKPLDI SSDPLNQSHP
121 SGMLCVMRVS PTSPRLRIDF IFSLLSKYAT GIRYTLDTFL HQKHQLETTD EDDDDTNQSV
181 SSIEDDFVTA FEHLEEEETS KPYNDGMNIT VLRSQCDAAS QTVTGHHLET HDLKILISSG
241 QQKSLAKPST SSVNVLGHKE LPSVKTSVTT SISEPWTQRS FYRSSNASDK DSDLQKTFFS
301 SSPAYSSESE CSSPSPVIFL DEEGYQKSLK AKLELPKIPV MKDDIEDSDS EVSEFFDSFD
361 QFDELEQTLE TCLFNKDPVI GKSSQRKGHK HGKSCMNPQK FKFDRPALPA NVRKPTPRKP
421 ESPYGNLCDA PDSPRPVKAS REDSGLFSPI RSSAFSPLGG CTPAECFCQT DIGGDRIHEN
481 HDSVYYTYED YAKSISCEVL GSVLRTHHTN TLSNINSIKH GENKTVTFKH GNLDQKNKSK
541 NKSLMIKDSI QKFAADLVEK SFGSAFKDLQ KGVSSCTNAL YHLAIKLTSS VLQMAFDELR
601 RQRAFSLKER AISGLANFLV SEALSNALKD LQYVKKQIFT NTVARFAADL AEELVFEGIM
661 EVCQFSYPQT PASPQCGSFD FEDKVVKLYA KDLSESVIQE AFIELSQVDV TFTTKAAVSV
721 STDNIKYVSA ESVVPSTQAV TFSPSFHNQA IMVTKPVQEY KKEYTVQQAL FCTSGIVTSI
781 PVPLAGSALL PYHISSTACQ AKAHLSSDDS NSNGDSAQVH IATKNREEKA ACLRNICLPS
841 EHNPGNQNDF KPTNDDIEMQ SSSKLPNDPA IISNFSAAVV HTIVNETLES MTSLEVTKMV
901 DERTDYLTKS LKEKTPPFSH CDQAVLQCSE ASSNKDMFAD RLSKSIIKHS IDKSKSVIPN
961 IDKNAVYKES LPVSGEESQL TPEKSPKFPD SQNQLTHCSL SAAKDCVPEC KVSMVHGSSL
1021 ETLPSCPAVT GQKSDLKESA KDQPLKKHNL NSTSLEALSF GQENPFPHSH TFSSTALTCV
1081 DGLHVEDKQK VRDRNVIPDT PPSTPLVPSR ASSEWDIKKL TKKLKGELAK EFAPATPPST
1141 PHNSSVGSLS ENEQNTIEKE EFMLKLMRSL SEEVESSESG ELPEVDVKSE HSGKKVQFAE
1201 ALATHILSLA TEMAASHLDN KIIQEPKVKN PCLNVQSQRS VSPTFLNPSD ENLKTLCNFA
1261 GDLAAEVITE AEKIAKVRNC MLFKQKKNSC YADGDEDYKV EEKLDIEAVV HPREVDPFIL
1321 SLPPSSCMSG LMYKYPSCES VTDEYAGHLI QILKQEGGNS ELIMDQYANR LAYRSVKSGL
1381 QEAAKTTKVQ CNSRMFPVPS SQVKTNKELL MFSNKEHHQE ADKKRQSKRN EGYFCKNQTC
1441 ERTLDPYRNE VSQLYSFSTS LVHSITKDAK EELTASLVGL PKSLTDSCLF EKSGYEEDNE
1501 CHVTPELPKS LQPSSQNHRF YHSTGSLNGY GCGDNVVQAV EQYAKKVVDD TLELTLGSTV
1561 FRVSETTKSA DRVTYAEKLS PLTGQACRYC DLKELHNCTG NSSQHFFRQG SLASSKPASN
1621 PKFSSRYQKS RIFHLSVPQI HVNLDKKAVL AEKIVAEAIE KAERELSSTS LAADSGIGQE
1681 GASFAESLAT ETMTAAVTNV GHAVSSSKEI EDFQSTESVS SQQMNLSIGD DSTGSWSNLS
1741 FEDEHQDESS SFHHLSESNG NSSSWSSLGL EGDLYEDNLS FPTSDSDGPD DKDEEHEDEV
1801 EGLGQDGKTL LITNIDMEPC TVDPQLRIIL QWLIASEAEV AELYFHDSAN KEFMLLSKQL
1861 QEKGWKVGDL LQAVLQYYEV MEKASSEERC KSLFDWLLEN A*
1 MATFRNNHMK TKASVRKSFS EDVFQSVKSL LQSQKELCSV TAEDCLQQDE HANLTEVTFL
61 GFNEETDAAH IQDLAAVSLE LPDILNSLHF CSLNENEIIC MKNINKPLDI SSDPLNQSHP
121 SGMLCVMRVS PTSPRLRIDF IFSLLSKYAT GIRYTLDTFL HQKHQLETTD EDDDDTNQSV
181 SSIEDDFVTA FEHLEEEETS KPYNDGMNIT VLRSQCDAAS QTVTGHHLET HDLKILISSG
241 QQKSLAKPST SSVNVLGHKE LPSVKTSVTT SISEPWTQRS FYRSSNASDK DSDLQKTFFS
301 SSPAYSSESE CSSPSPVIFL DEEGYQKSLK AKLELPKIPV MKDDIEDSDS EVSEFFDSFD
361 QFDELEQTLE TCLFNKDPVI GKSSQRKGHK HGKSCMNPQK FKFDRPALPA NVRKPTPRKP
421 ESPYGNLCDA PDSPRPVKAS REDSGLFSPI RSSAFSPLGG CTPAECFCQT DIGGDRIHEN
481 HDSVYYTYED YAKSISCEVL GSVLRTHHTN TLSNINSIKH GENKTVTFKH GNLDQKNKSK
541 NKSLMIKDSI QKFAADLVEK SFGSAFKDLQ KGVSSCTNAL YHLAIKLTSS VLQMAFDELR
601 RQRAFSLKER AISGLANFLV SEALSNALKD LQYVKKQIFT NTWARFAADL AEELVFEGIM
661 EVCQFSYPQT PASPQCGSFD FEDKVVKLYA KDLSESVIQE AFIELSQVDV TFTTKAAVSV
721 STDNIKYVSA ESVVPSTQAV TFSPSFHNQA IMVTKPVQEY KKEYTVQQAL FCTSGIVTSI
781 PVPLAGSALL PYHISSTACQ AKAHLSSDDS NSNGDSAQVH IATKNREEKA ACLRNICLPS
841 EHNPGNQNDF KPTNDDIEMQ SSSKLPNDPA IISNFSAAVV HTIVNETLES MTSLEVTKMV
901 DERTDYLTKS LKEKTPPFSH CDQAVLQCSE ASSNKDMFAD RLSKSIIKHS IDKSKSVIPN
961 IDKNAVYKES LPVSGEESQL TPEKSPKFPD SQNQLTHCSL SAAKDCVPEC KVSMVHGSSL
1021 ETLPSCPAVT GQKSDLKESA KDQPLKKHNL NSTSLEALSF GQENPFPHSH TFSSTALTCV
1081 DGLHVEDKQK VRDRNVIPDT PPSTPLVPSR ASSEWDIKKL TKKLKGELAK EFAPATPPST
1141 PHNSSVGSLS ENEQNTIEKE EFMLKLMRSL SEEVESSESG ELPEVDVKSE HSGKKVQFAE
1201 ALATHILSLA TEMAASHLDN KIIQEPKVKN PCLNVQSQRS VSPTFLNPSD ENLKTLCNFA
1261 GDLAAEVITE AEKIAKVRNC MLFKQKKNSC YADGDEDYKV EEKLDIEAVV HPREVDPFIL
1321 SLPPSSCMSG LMYKYPSCES VTDEYAGHLI QILKQEGGNS ELIMDQYANR LAYRSVKSGL
1381 QEAAKTTKVQ CNSRMFPVPS SQVKTNKELL MFSNKEHHQE ADKKRQSKRN EGYFCKNQTC
1441 ERTLDPYRNE VSQLYSFSTS LVHSITKDAK EELTASLVGL PKSLTDSCLF EKSGYEEDNE
1501 CHVTPELPKS LQPSSQNHRF YHSTGSLNGY GCGDNVVQAV EQYAKKVVDD TLELTLGSTV
1561 FRVSETTKSA DRVTYAEKLS PLTGQACRYC DLKELHNCTG NSSQHFFRQG SLASSKPASN
1621 PKFSSRYQKS RIFHLSVPQI HVNLDKKAVL AEKIVAEAIE KAERELSSTS LAADSGIGQE
1681 GASFAESLAT ETMTAAVTNV GHAVSSSKEI EDFQSTESVS SQQMNLSIGD DSTGSWSNLS
1741 FEDEHQDESS SFHHLSESNG NSSSWSSLGL EGDLYEDNLS FPTSDSDGPD DKDEEHEDEV
1801 EGLGQDGKTL LITNIDMEPC TVDPQLRIIL QWLIASEAEV AELYFHDSAN KEFMLLSKQL
1861 QEKGWKVGDL LQAVLQYYEV MEKASSEERC KSLFDWLLEN A*
Raw variant | Created | Deleted |
---|---|---|
1 | CviAII, CviKI_1, FatI, NlaIII | HpyCH4III |
Genomic description: 2102_2104delinsTGG
Number | Start (g.) | Stop (g.) | Start (c.) | Stop (c.) |
---|---|---|---|---|
1 | 1 | 76 | -175 | -100 |
2 | 77 | 126 | -99 | -50 |
3 | 127 | 226 | -49 | 51 |
4 | 227 | 343 | 52 | 168 |
5 | 344 | 391 | 169 | 216 |
6 | 392 | 526 | 217 | 351 |
7 | 527 | 791 | 352 | 616 |
8 | 792 | 5292 | 617 | 5117 |
9 | 5293 | 5448 | 5118 | 5273 |
10 | 5449 | 5532 | 5274 | 5357 |
11 | 5533 | 5579 | 5358 | 5404 |
12 | 5580 | 5740 | 5405 | 5565 |
13 | 5741 | 9920 | 5566 | *4039 |
g. | c. | |
---|---|---|
Start | 176 | 1 |
Stop | 5881 | 5706 |
Download this reference sequence file: NM_016248.3.gb
Name | ID | Locus tag | Product | Link method |
---|---|---|---|---|
AKAP11_v001 | NM_016248.3 | exhaustion | ||
AKAP11_i001 | NP_057332.1 | A-kinase anchor protein 11 | exhaustion |
Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.