Canonical Allele Identifier: CA2580071772

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1973615
• ClinVar RCV Id: RCV002765362

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301294_6301295delinsGT , CM000666.2:g.6301294_6301295delinsGT	GRCh38
NC_000004.11:g.6303021_6303022delinsGT , CM000666.1:g.6303021_6303022delinsGT	GRCh37
NC_000004.10:g.6353922_6353923delinsGT	NCBI36
NG_011700.1:g.36445_36446delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1535_1536delinsGT	ENSP00000507852.1:p.Asn512Ser
ENST00000683395.1:c.1476_1477delinsGT
ENST00000684087.1:c.1499_1500delinsGT	ENSP00000506978.1:p.Asn500Ser
ENST00000506362.2:c.1250_1251delinsGT	ENSP00000424103.2:p.Asn417Ser
ENST00000673642.1:c.1158_1159delinsGT	ENSP00000501242.1:p.Arg387Cys
ENST00000673991.1:c.1535_1536delinsGT	ENSP00000501033.1:p.Asn512Ser
ENST00000226760.5:c.1499_1500delinsGT MANE Select	ENSP00000226760.1:p.Asn500Ser
ENST00000503569.5:c.1499_1500delinsGT	ENSP00000423337.1:p.Asn500Ser
ENST00000507765.1:n.1684_1685delinsGT
NM_001145853.1:c.1499_1500delinsGT	NP_001139325.1:p.Asn500Ser
NM_006005.3:c.1499_1500delinsGT MANE Select	NP_005996.2:p.Asn500Ser
XM_017008586.1:c.1508_1509delinsGT	XP_016864075.1:p.Asn503Ser