Canonical Allele Identifier: CA549707917

Gene: WFS1

Linked Data

• dbSNP Id: rs1560419375
• gnomAD v2: 4-6303010-GGTC-G
• gnomAD v4: 4-6301283-GGTC-G
• MyVariant Identifiers: chr4:g.6303011_6303013del (hg19) ; chr4:g.6301284_6301286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301287_6301289del , CM000666.2:g.6301287_6301289del	GRCh38
NC_000004.11:g.6303014_6303016del , CM000666.1:g.6303014_6303016del	GRCh37
NC_000004.10:g.6353915_6353917del	NCBI36
NG_011700.1:g.36438_36440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1528_1530del	ENSP00000507852.1:p.Val510del
ENST00000683395.1:c.1469_1471del
ENST00000684087.1:c.1492_1494del	ENSP00000506978.1:p.Val498del
ENST00000506362.2:c.1243_1245del	ENSP00000424103.2:p.Val415del
ENST00000673642.1:c.1151_1153del	ENSP00000501242.1:p.Arg384del
ENST00000673991.1:c.1528_1530del	ENSP00000501033.1:p.Val510del
ENST00000226760.5:c.1492_1494del MANE Select	ENSP00000226760.1:p.Val498del
ENST00000503569.5:c.1492_1494del	ENSP00000423337.1:p.Val498del
ENST00000507765.1:n.1677_1679del
NM_001145853.1:c.1492_1494del	NP_001139325.1:p.Val498del
NM_006005.3:c.1492_1494del MANE Select	NP_005996.2:p.Val498del
XM_017008586.1:c.1501_1503del	XP_016864075.1:p.Val501del