Canonical Allele Identifier: CA1435772522
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302247_6302295delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG , CM000666.2:g.6302247_6302295delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG GRCh38
NC_000004.11:g.6303974_6304022delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG , CM000666.1:g.6303974_6304022delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG GRCh37
NC_000004.10:g.6354875_6354923delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG NCBI36
NG_011700.1:g.37398_37446delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2488_2536delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG ENSP00000507852.1:p.Arg830=
ENST00000683395.1:c.2429_2477delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG
ENST00000684087.1:c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG ENSP00000506978.1:p.Arg818=
ENST00000506362.2:c.2203_2251delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG ENSP00000424103.2:p.Arg735=
ENST00000673991.1:c.2488_2536delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG ENSP00000501033.1:p.Arg830=
ENST00000226760.5:c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG MANE Select ENSP00000226760.1:p.Arg818=
ENST00000503569.5:c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG ENSP00000423337.1:p.Arg818=
ENST00000507765.1:n.2637_2685delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG
NM_001145853.1:c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG NP_001139325.1:p.Arg818=
NM_006005.3:c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG MANE Select NP_005996.2:p.Arg818=
XM_017008586.1:c.2461_2509delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG XP_016864075.1:p.Arg821=