Canonical Allele Identifier: CA91796489
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1553878696

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301520del , CM000666.2:g.6301520del GRCh38
NC_000004.11:g.6303247del , CM000666.1:g.6303247del GRCh37
NC_000004.10:g.6354148del NCBI36
NG_011700.1:g.36671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1761del ENSP00000507852.1:p.Gly588AlafsTer?
ENST00000683395.1:c.1702del
ENST00000684087.1:c.1725del ENSP00000506978.1:p.Gly576AlafsTer?
ENST00000506362.2:c.1476del ENSP00000424103.2:p.Gly493AlafsTer?
ENST00000673642.1:c.1384del ENSP00000501242.1:n.1384del
ENST00000673991.1:c.1761del ENSP00000501033.1:p.Gly588AlafsTer?
ENST00000226760.5:c.1725del MANE Select ENSP00000226760.1:p.Gly576AlafsTer?
ENST00000503569.5:c.1725del ENSP00000423337.1:p.Gly576AlafsTer?
ENST00000507765.1:n.1910del
NM_001145853.1:c.1725del NP_001139325.1:p.Gly576AlafsTer?
NM_006005.3:c.1725del MANE Select NP_005996.2:p.Gly576AlafsTer?
XM_017008586.1:c.1734del XP_016864075.1:p.Gly579AlafsTer?