Canonical Allele Identifier: CA917120719

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1458815
• ClinVar RCV Id: RCV002497889 ; RCV001958685
• dbSNP Id: rs1560419631
• gnomAD v4: 4-6301398-CTGGTGTGCTTCATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301406_6301419del , CM000666.2:g.6301406_6301419del	GRCh38
NC_000004.11:g.6303133_6303146del , CM000666.1:g.6303133_6303146del	GRCh37
NC_000004.10:g.6354034_6354047del	NCBI36
NG_011700.1:g.36557_36570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1647_1660del	ENSP00000507852.1:p.Cys549Ter
ENST00000683395.1:c.1588_1601del
ENST00000684087.1:c.1611_1624del	ENSP00000506978.1:p.Cys537Ter
ENST00000506362.2:c.1362_1375del	ENSP00000424103.2:p.Cys454Ter
ENST00000673642.1:c.1270_1283del	ENSP00000501242.1:p.Leu424SerfsTer?
ENST00000673991.1:c.1647_1660del	ENSP00000501033.1:p.Cys549Ter
ENST00000226760.5:c.1611_1624del MANE Select	ENSP00000226760.1:p.Cys537Ter
ENST00000503569.5:c.1611_1624del	ENSP00000423337.1:p.Cys537Ter
ENST00000507765.1:n.1796_1809del
NM_001145853.1:c.1611_1624del	NP_001139325.1:p.Cys537Ter
NM_006005.3:c.1611_1624del MANE Select	NP_005996.2:p.Cys537Ter
XM_017008586.1:c.1620_1633del	XP_016864075.1:p.Cys540Ter