Canonical Allele Identifier: CA2586973625
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301302_6301314del , CM000666.2:g.6301302_6301314del GRCh38
NC_000004.11:g.6303029_6303041del , CM000666.1:g.6303029_6303041del GRCh37
NC_000004.10:g.6353930_6353942del NCBI36
NG_011700.1:g.36453_36465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1543_1555del ENSP00000507852.1:p.Val515SerfsTer15
ENST00000683395.1:c.1484_1496del
ENST00000684087.1:c.1507_1519del ENSP00000506978.1:p.Val503SerfsTer15
ENST00000506362.2:c.1258_1270del ENSP00000424103.2:p.Val420SerfsTer15
ENST00000673642.1:c.1166_1178del ENSP00000501242.1:p.Arg389LeufsTer?
ENST00000673991.1:c.1543_1555del ENSP00000501033.1:p.Val515SerfsTer15
ENST00000226760.5:c.1507_1519del MANE Select ENSP00000226760.1:p.Val503SerfsTer15
ENST00000503569.5:c.1507_1519del ENSP00000423337.1:p.Val503SerfsTer15
ENST00000507765.1:n.1692_1704del
NM_001145853.1:c.1507_1519del NP_001139325.1:p.Val503SerfsTer15
NM_006005.3:c.1507_1519del MANE Select NP_005996.2:p.Val503SerfsTer15
XM_017008586.1:c.1516_1528del XP_016864075.1:p.Val506SerfsTer15