Canonical Allele Identifier: CA549423119
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs56102017
gnomAD v2: 4-6292758-G-GC
gnomAD v3: 4-6291031-G-GC
gnomAD v4: 4-6291031-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291031_6291032insC , CM000666.2:g.6291031_6291032insC GRCh38
NC_000004.11:g.6292758_6292759insC , CM000666.1:g.6292758_6292759insC GRCh37
NC_000004.10:g.6343659_6343660insC NCBI36
NG_011700.1:g.26182_26183insC

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.461-166_461-165insC ENSP00000507852.1:n.461-166_461-165insC
ENST00000683395.1:c.451-166_451-165insC
ENST00000684087.1:c.461-166_461-165insC ENSP00000506978.1:n.461-166_461-165insC
ENST00000684700.1:c.461-166_461-165insC ENSP00000507806.1:n.461-166_461-165insC
ENST00000506362.2:c.212-166_212-165insC ENSP00000424103.2:n.212-166_212-165insC
ENST00000673642.1:c.260-166_260-165insC ENSP00000501242.1:n.260-166_260-165insC
ENST00000673991.1:c.461-166_461-165insC ENSP00000501033.1:n.461-166_461-165insC
ENST00000674051.1:c.335-166_335-165insC ENSP00000501083.1:n.335-166_335-165insC
ENST00000226760.5:c.461-166_461-165insC MANE Select ENSP00000226760.1:n.461-166_461-165insC
ENST00000503569.5:c.461-166_461-165insC ENSP00000423337.1:n.461-166_461-165insC
ENST00000506362.1:c.58-166_58-165insC
ENST00000507765.1:n.646-166_646-165insC
NM_001145853.1:c.461-166_461-165insC NP_001139325.1:n.461-166_461-165insC
NM_006005.3:c.461-166_461-165insC MANE Select NP_005996.2:n.461-166_461-165insC
XM_017008586.1:c.470-166_470-165insC XP_016864075.1:n.470-166_470-165insC