Canonical Allele Identifier: CA2580071771

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1705714
• ClinVar RCV Id: RCV002284028

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301286_6301287insT , CM000666.2:g.6301286_6301287insT	GRCh38
NC_000004.11:g.6303013_6303014insT , CM000666.1:g.6303013_6303014insT	GRCh37
NC_000004.10:g.6353914_6353915insT	NCBI36
NG_011700.1:g.36437_36438insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1527_1528insT	ENSP00000507852.1:p.Val510CysfsTer?
ENST00000683395.1:c.1468_1469insT
ENST00000684087.1:c.1491_1492insT	ENSP00000506978.1:p.Val498CysfsTer?
ENST00000506362.2:c.1242_1243insT	ENSP00000424103.2:p.Val415CysfsTer?
ENST00000673642.1:c.1150_1151insT	ENSP00000501242.1:p.Arg384LeufsTer25
ENST00000673991.1:c.1527_1528insT	ENSP00000501033.1:p.Val510CysfsTer?
ENST00000226760.5:c.1491_1492insT MANE Select	ENSP00000226760.1:p.Val498CysfsTer?
ENST00000503569.5:c.1491_1492insT	ENSP00000423337.1:p.Val498CysfsTer?
ENST00000507765.1:n.1676_1677insT
NM_001145853.1:c.1491_1492insT	NP_001139325.1:p.Val498CysfsTer?
NM_006005.3:c.1491_1492insT MANE Select	NP_005996.2:p.Val498CysfsTer?
XM_017008586.1:c.1500_1501insT	XP_016864075.1:p.Val501CysfsTer?