Canonical Allele Identifier: CA2838963

Gene: WFS1

Linked Data

• dbSNP Id: rs780589469
• ExAC: 4:6293111 T / TC
• gnomAD v2: 4-6293111-T-TC
• gnomAD v4: 4-6291384-T-TC
• MyVariant Identifiers: chr4:g.6293111_6293112insC (hg19) ; chr4:g.6291384_6291385insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291384_6291385insC , CM000666.2:g.6291384_6291385insC	GRCh38
NC_000004.11:g.6293111_6293112insC , CM000666.1:g.6293111_6293112insC	GRCh37
NC_000004.10:g.6344012_6344013insC	NCBI36
NG_011700.1:g.26535_26536insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+17_631+18insC	ENSP00000507852.1:n.631+17_631+18insC
ENST00000683395.1:c.608+30_608+31insC
ENST00000684087.1:c.631+17_631+18insC	ENSP00000506978.1:n.631+17_631+18insC
ENST00000684700.1:c.648_649insC	ENSP00000507806.1:p.Gly217ArgfsTer?
ENST00000506362.2:c.382+17_382+18insC	ENSP00000424103.2:n.382+17_382+18insC
ENST00000673642.1:c.430+17_430+18insC	ENSP00000501242.1:n.430+17_430+18insC
ENST00000673991.1:c.631+17_631+18insC	ENSP00000501033.1:n.631+17_631+18insC
ENST00000226760.5:c.631+17_631+18insC MANE Select	ENSP00000226760.1:n.631+17_631+18insC
ENST00000503569.5:c.631+17_631+18insC	ENSP00000423337.1:n.631+17_631+18insC
ENST00000506362.1:c.228+17_228+18insC
ENST00000507765.1:n.816+17_816+18insC
NM_001145853.1:c.631+17_631+18insC	NP_001139325.1:n.631+17_631+18insC
NM_006005.3:c.631+17_631+18insC MANE Select	NP_005996.2:n.631+17_631+18insC
XM_017008586.1:c.640+17_640+18insC	XP_016864075.1:n.640+17_640+18insC