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Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup


0 Errors, 0 Warnings.


Overview of the raw variants

Raw variant 1: deletion of 583 to 585

CTGCGCAAGCTGCGTAAGCGGCTCC TCC GCGATGCCGATGACCTGCAGAAGCG
CTGCGCAAGCTGCGTAAGCGGCTCC --- GCGATGCCGATGACCTGCAGAAGCG

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_000041.2:n.583_585del

Affected transcripts - 1

Affected proteins - 1

NM_000041.2(APOE_i001):p.(Leu167del)

Reference protein

  1  MKVLWAALLV TFLAGCQAKV EQAVETEPEP ELRQQTEWQS GQRWELALGR FWDYLRWVQT
61 LSEQVQEELL SSQVTQELRA LMDETMKELK AYKSELEEQL TPVAEETRAR LSKELQAAQA
121 RLGADMEDVC GRLVQYRGEV QAMLGQSTEE LRVRLASHLR KLRKRLLRDA DDLQKRLAVY
181 QAGAREGAER GLSAIRERLG PLVEQGRVRA ATVGSLAGQP LQERAQAWGE RLRARMEEMG
241 SRTRDRLDEV KEQVAEVRAK LEEQAQQIRL QAEAFQARLK SWFEPLVEDM QRQWAGLVEK
301 VQAAVGTSAA PVPSDNH*

Protein predicted from variant coding sequence

  1  MKVLWAALLV TFLAGCQAKV EQAVETEPEP ELRQQTEWQS GQRWELALGR FWDYLRWVQT
61 LSEQVQEELL SSQVTQELRA LMDETMKELK AYKSELEEQL TPVAEETRAR LSKELQAAQA
121 RLGADMEDVC GRLVQYRGEV QAMLGQSTEE LRVRLASHLR KLRKRLRDAD DLQKRLAVYQ
181 AGAREGAERG LSAIRERLGP LVEQGRVRAA TVGSLAGQPL QERAQAWGER LRARMEEMGS
241 RTRDRLDEVK EQVAEVRAKL EEQAQQIRLQ AEAFQARLKS WFEPLVEDMQ RQWAGLVEKV
301 QAAVGTSAAP VPSDNH*

Effects on Restriction sites

Raw variant Created Deleted
1 BseRI, MnlI

Experimental services

Genomic description: 583_585del

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 60 -83 -24
2 61 126 -23 43
3 127 319 44 236
4 320 1180 237 *143

CDS information

g. c.
Start 84 1
Stop 1037 954

Links

Download this reference sequence file: NM_000041.2.gb


Name ID Locus tag Product Link method
APOE_v001 NM_000041.2 exhaustion
APOE_i001 NP_000032.1 apolipoprotein E precursor exhaustion

Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.