Canonical Allele Identifier: CA2586973643
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301876del , CM000666.2:g.6301876del GRCh38
NC_000004.11:g.6303603del , CM000666.1:g.6303603del GRCh37
NC_000004.10:g.6354504del NCBI36
NG_011700.1:g.37027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2117del ENSP00000507852.1:p.Glu706GlyfsTer16
ENST00000683395.1:c.2058del
ENST00000684087.1:c.2081del ENSP00000506978.1:p.Glu694GlyfsTer16
ENST00000506362.2:c.1832del ENSP00000424103.2:p.Glu611GlyfsTer16
ENST00000673642.1:c.1740del ENSP00000501242.1:n.1740del
ENST00000673991.1:c.2117del ENSP00000501033.1:p.Glu706GlyfsTer16
ENST00000226760.5:c.2081del MANE Select ENSP00000226760.1:p.Glu694GlyfsTer16
ENST00000503569.5:c.2081del ENSP00000423337.1:p.Glu694GlyfsTer16
ENST00000507765.1:n.2266del
NM_001145853.1:c.2081del NP_001139325.1:p.Glu694GlyfsTer16
NM_006005.3:c.2081del MANE Select NP_005996.2:p.Glu694GlyfsTer16
XM_017008586.1:c.2090del XP_016864075.1:p.Glu697GlyfsTer16