Canonical Allele Identifier: CA1435772186
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730950129

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302002del , CM000666.2:g.6302002del GRCh38
NC_000004.11:g.6303729del , CM000666.1:g.6303729del GRCh37
NC_000004.10:g.6354630del NCBI36
NG_011700.1:g.37153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2243del ENSP00000507852.1:p.Gly748AlafsTer?
ENST00000683395.1:c.2184del
ENST00000684087.1:c.2207del ENSP00000506978.1:p.Gly736AlafsTer?
ENST00000506362.2:c.1958del ENSP00000424103.2:p.Gly653AlafsTer?
ENST00000673642.1:c.1866del ENSP00000501242.1:n.1866del
ENST00000673991.1:c.2243del ENSP00000501033.1:p.Gly748AlafsTer?
ENST00000226760.5:c.2207del MANE Select ENSP00000226760.1:p.Gly736AlafsTer?
ENST00000503569.5:c.2207del ENSP00000423337.1:p.Gly736AlafsTer?
ENST00000507765.1:n.2392del
NM_001145853.1:c.2207del NP_001139325.1:p.Gly736AlafsTer?
NM_006005.3:c.2207del MANE Select NP_005996.2:p.Gly736AlafsTer?
XM_017008586.1:c.2216del XP_016864075.1:p.Gly739AlafsTer?