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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


C not found at position 1161, found G instead.

1 Error, 0 Warnings.


Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 77 -212 -136
2 78 159 -135 -54
3 160 299 -53 87
4 300 550 88 338
5 551 692 339 480
6 693 760 481 548
7 761 981 549 769
8 982 1080 770 868
9 1081 1167 869 955
10 1168 1341 956 1129
11 1342 1460 1130 1248
12 1461 6018 1249 *4402

CDS information

g. c.
Start 213 1
Stop 1616 1404

Links

Download this reference sequence file: NM_000021.4.gb


Name ID Locus tag Product Link method
PSEN1_v001 NM_000021.4 exhaustion
PSEN1_i001 NP_000012.1 presenilin-1 isoform I-467 exhaustion

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