Canonical Allele Identifier: CA2839396

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1298955
• ClinVar RCV Id: RCV001727285 ; RCV002503178
• dbSNP Id: rs777904670
• ExAC: 4:6303062 CTCT / C
• gnomAD v2: 4-6303062-CTCT-C
• gnomAD v4: 4-6301335-CTCT-C
• MyVariant Identifiers: chr4:g.6303063_6303065del (hg19) ; chr4:g.6301336_6301338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301341_6301343del , CM000666.2:g.6301341_6301343del	GRCh38
NC_000004.11:g.6303068_6303070del , CM000666.1:g.6303068_6303070del	GRCh37
NC_000004.10:g.6353969_6353971del	NCBI36
NG_011700.1:g.36492_36494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1582_1584del	ENSP00000507852.1:p.Phe528del
ENST00000683395.1:c.1523_1525del
ENST00000684087.1:c.1546_1548del	ENSP00000506978.1:p.Phe516del
ENST00000506362.2:c.1297_1299del	ENSP00000424103.2:p.Phe433del
ENST00000673642.1:c.1205_1207del	ENSP00000501242.1:p.Leu402del
ENST00000673991.1:c.1582_1584del	ENSP00000501033.1:p.Phe528del
ENST00000226760.5:c.1546_1548del MANE Select	ENSP00000226760.1:p.Phe516del
ENST00000503569.5:c.1546_1548del	ENSP00000423337.1:p.Phe516del
ENST00000507765.1:n.1731_1733del
NM_001145853.1:c.1546_1548del	NP_001139325.1:p.Phe516del
NM_006005.3:c.1546_1548del MANE Select	NP_005996.2:p.Phe516del
XM_017008586.1:c.1555_1557del	XP_016864075.1:p.Phe519del