Canonical Allele Identifier: CA2669843440

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301295-C-CAGCGTCCCGTGCCTGCTCTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301295_6301296insAGCGTCCCGTGCCTGCTCTAT , CM000666.2:g.6301295_6301296insAGCGTCCCGTGCCTGCTCTAT	GRCh38
NC_000004.11:g.6303022_6303023insAGCGTCCCGTGCCTGCTCTAT , CM000666.1:g.6303022_6303023insAGCGTCCCGTGCCTGCTCTAT	GRCh37
NC_000004.10:g.6353923_6353924insAGCGTCCCGTGCCTGCTCTAT	NCBI36
NG_011700.1:g.36446_36447insAGCGTCCCGTGCCTGCTCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1536_1537insAGCGTCCCGTGCCTGCTCTAT	ENSP00000507852.1:p.Asn512_Val513insSerValProCysLeuLeuTyr
ENST00000683395.1:c.1477_1478insAGCGTCCCGTGCCTGCTCTAT
ENST00000684087.1:c.1500_1501insAGCGTCCCGTGCCTGCTCTAT	ENSP00000506978.1:p.Asn500_Val501insSerValProCysLeuLeuTyr
ENST00000506362.2:c.1251_1252insAGCGTCCCGTGCCTGCTCTAT	ENSP00000424103.2:p.Asn417_Val418insSerValProCysLeuLeuTyr
ENST00000673642.1:c.1159_1160insAGCGTCCCGTGCCTGCTCTAT	ENSP00000501242.1:p.Arg387delinsGlnArgProValProAlaLeuCys
ENST00000673991.1:c.1536_1537insAGCGTCCCGTGCCTGCTCTAT	ENSP00000501033.1:p.Asn512_Val513insSerValProCysLeuLeuTyr
ENST00000226760.5:c.1500_1501insAGCGTCCCGTGCCTGCTCTAT MANE Select	ENSP00000226760.1:p.Asn500_Val501insSerValProCysLeuLeuTyr
ENST00000503569.5:c.1500_1501insAGCGTCCCGTGCCTGCTCTAT	ENSP00000423337.1:p.Asn500_Val501insSerValProCysLeuLeuTyr
ENST00000507765.1:n.1685_1686insAGCGTCCCGTGCCTGCTCTAT
NM_001145853.1:c.1500_1501insAGCGTCCCGTGCCTGCTCTAT	NP_001139325.1:p.Asn500_Val501insSerValProCysLeuLeuTyr
NM_006005.3:c.1500_1501insAGCGTCCCGTGCCTGCTCTAT MANE Select	NP_005996.2:p.Asn500_Val501insSerValProCysLeuLeuTyr
XM_017008586.1:c.1509_1510insAGCGTCCCGTGCCTGCTCTAT	XP_016864075.1:p.Asn503_Val504insSerValProCysLeuLeuTyr