Canonical Allele Identifier: CA2839376

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1519699
• ClinVar RCV Id: RCV002024756
• dbSNP Id: rs752122426
• ExAC: 4:6303014 GTCC / G
• gnomAD v2: 4-6303014-GTCC-G
• gnomAD v3: 4-6301287-GTCC-G
• gnomAD v4: 4-6301287-GTCC-G
• MyVariant Identifiers: chr4:g.6303015_6303017del (hg19) ; chr4:g.6301288_6301290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301290_6301292del , CM000666.2:g.6301290_6301292del	GRCh38
NC_000004.11:g.6303017_6303019del , CM000666.1:g.6303017_6303019del	GRCh37
NC_000004.10:g.6353918_6353920del	NCBI36
NG_011700.1:g.36441_36443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1531_1533del	ENSP00000507852.1:p.Leu511del
ENST00000683395.1:c.1472_1474del
ENST00000684087.1:c.1495_1497del	ENSP00000506978.1:p.Leu499del
ENST00000506362.2:c.1246_1248del	ENSP00000424103.2:p.Leu416del
ENST00000673642.1:c.1154_1156del	ENSP00000501242.1:p.Pro385del
ENST00000673991.1:c.1531_1533del	ENSP00000501033.1:p.Leu511del
ENST00000226760.5:c.1495_1497del MANE Select	ENSP00000226760.1:p.Leu499del
ENST00000503569.5:c.1495_1497del	ENSP00000423337.1:p.Leu499del
ENST00000507765.1:n.1680_1682del
NM_001145853.1:c.1495_1497del	NP_001139325.1:p.Leu499del
NM_006005.3:c.1495_1497del MANE Select	NP_005996.2:p.Leu499del
XM_017008586.1:c.1504_1506del	XP_016864075.1:p.Leu502del