Canonical Allele Identifier: CA2839379

Gene: WFS1

Linked Data

• dbSNP Id: rs755449408
• ExAC: 4:6303020 AACG / A
• gnomAD v2: 4-6303020-AACG-A
• gnomAD v4: 4-6301293-AACG-A
• MyVariant Identifiers: chr4:g.6303021_6303023del (hg19) ; chr4:g.6301294_6301296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301294_6301296del , CM000666.2:g.6301294_6301296del	GRCh38
NC_000004.11:g.6303021_6303023del , CM000666.1:g.6303021_6303023del	GRCh37
NC_000004.10:g.6353922_6353924del	NCBI36
NG_011700.1:g.36445_36447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1535_1537del	ENSP00000507852.1:p.Asn512_Val513delinsIle
ENST00000683395.1:c.1476_1478del
ENST00000684087.1:c.1499_1501del	ENSP00000506978.1:p.Asn500_Val501delinsIle
ENST00000506362.2:c.1250_1252del	ENSP00000424103.2:p.Asn417_Val418delinsIle
ENST00000673642.1:c.1158_1160del	ENSP00000501242.1:p.Gln386_Arg387delinsHis
ENST00000673991.1:c.1535_1537del	ENSP00000501033.1:p.Asn512_Val513delinsIle
ENST00000226760.5:c.1499_1501del MANE Select	ENSP00000226760.1:p.Asn500_Val501delinsIle
ENST00000503569.5:c.1499_1501del	ENSP00000423337.1:p.Asn500_Val501delinsIle
ENST00000507765.1:n.1684_1686del
NM_001145853.1:c.1499_1501del	NP_001139325.1:p.Asn500_Val501delinsIle
NM_006005.3:c.1499_1501del MANE Select	NP_005996.2:p.Asn500_Val501delinsIle
XM_017008586.1:c.1508_1510del	XP_016864075.1:p.Asn503_Val504delinsIle