Canonical Allele Identifier: CA2499217324

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1205588
• ClinVar RCV Id: RCV001572293
• dbSNP Id: rs2109126109
• gnomAD v4: 4-6301342-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301344del , CM000666.2:g.6301344del	GRCh38
NC_000004.11:g.6303071del , CM000666.1:g.6303071del	GRCh37
NC_000004.10:g.6353972del	NCBI36
NG_011700.1:g.36495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1585del	ENSP00000507852.1:p.Arg529AlafsTer5
ENST00000683395.1:c.1526del
ENST00000684087.1:c.1549del	ENSP00000506978.1:p.Arg517AlafsTer5
ENST00000506362.2:c.1300del	ENSP00000424103.2:p.Arg434AlafsTer5
ENST00000673642.1:c.1208del	ENSP00000501242.1:p.Pro403ArgfsTer?
ENST00000673991.1:c.1585del	ENSP00000501033.1:p.Arg529AlafsTer5
ENST00000226760.5:c.1549del MANE Select	ENSP00000226760.1:p.Arg517AlafsTer5
ENST00000503569.5:c.1549del	ENSP00000423337.1:p.Arg517AlafsTer5
ENST00000507765.1:n.1734del
NM_001145853.1:c.1549del	NP_001139325.1:p.Arg517AlafsTer5
NM_006005.3:c.1549del MANE Select	NP_005996.2:p.Arg517AlafsTer5
XM_017008586.1:c.1558del	XP_016864075.1:p.Arg520AlafsTer5