Canonical Allele Identifier: CA2760284697
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300948del , CM000666.2:g.6300948del GRCh38
NC_000004.11:g.6302675del , CM000666.1:g.6302675del GRCh37
NC_000004.10:g.6353576del NCBI36
NG_011700.1:g.36099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1189del ENSP00000507852.1:p.Glu397SerfsTer?
ENST00000683395.1:c.1130del
ENST00000684087.1:c.1153del ENSP00000506978.1:p.Glu385SerfsTer?
ENST00000506362.2:c.904del ENSP00000424103.2:p.Glu302SerfsTer?
ENST00000673642.1:c.812del ENSP00000501242.1:p.Arg271GlnfsTer?
ENST00000673991.1:c.1189del ENSP00000501033.1:p.Glu397SerfsTer?
ENST00000226760.5:c.1153del MANE Select ENSP00000226760.1:p.Glu385SerfsTer?
ENST00000503569.5:c.1153del ENSP00000423337.1:p.Glu385SerfsTer?
ENST00000507765.1:n.1338del
NM_001145853.1:c.1153del NP_001139325.1:p.Glu385SerfsTer?
NM_006005.3:c.1153del MANE Select NP_005996.2:p.Glu385SerfsTer?
XM_017008586.1:c.1162del XP_016864075.1:p.Glu388SerfsTer?