Canonical Allele Identifier: CA1435773609
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301455_6301482delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT , CM000666.2:g.6301455_6301482delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT GRCh38
NC_000004.11:g.6303182_6303209delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT , CM000666.1:g.6303182_6303209delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT GRCh37
NC_000004.10:g.6354083_6354110delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT NCBI36
NG_011700.1:g.36606_36633delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1696_1723delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000507852.1:p.Leu566=
ENST00000683395.1:c.1637_1664delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT
ENST00000684087.1:c.1660_1687delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000506978.1:p.Leu554=
ENST00000506362.2:c.1411_1438delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000424103.2:p.Leu471=
ENST00000673642.1:c.1319_1346delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000501242.1:n.1319_1346delinsCTGGGGCTGCTCCGCGCCTCCATCGG...
ENST00000673991.1:c.1696_1723delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000501033.1:p.Leu566=
ENST00000226760.5:c.1660_1687delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT MANE Select ENSP00000226760.1:p.Leu554=
ENST00000503569.5:c.1660_1687delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT ENSP00000423337.1:p.Leu554=
ENST00000507765.1:n.1845_1872delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT
NM_001145853.1:c.1660_1687delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT NP_001139325.1:p.Leu554=
NM_006005.3:c.1660_1687delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT MANE Select NP_005996.2:p.Leu554=
XM_017008586.1:c.1669_1696delinsCTGGGGCTGCTCCGCGCCTCCATCGGCT XP_016864075.1:p.Leu557=