Canonical Allele Identifier: CA2586973626
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301320_6301332del , CM000666.2:g.6301320_6301332del GRCh38
NC_000004.11:g.6303047_6303059del , CM000666.1:g.6303047_6303059del GRCh37
NC_000004.10:g.6353948_6353960del NCBI36
NG_011700.1:g.36471_36483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1561_1573del ENSP00000507852.1:p.Val521IlefsTer9
ENST00000683395.1:c.1502_1514del
ENST00000684087.1:c.1525_1537del ENSP00000506978.1:p.Val509IlefsTer9
ENST00000506362.2:c.1276_1288del ENSP00000424103.2:p.Val426IlefsTer9
ENST00000673642.1:c.1184_1196del ENSP00000501242.1:p.Cys395TyrfsTer?
ENST00000673991.1:c.1561_1573del ENSP00000501033.1:p.Val521IlefsTer9
ENST00000226760.5:c.1525_1537del MANE Select ENSP00000226760.1:p.Val509IlefsTer9
ENST00000503569.5:c.1525_1537del ENSP00000423337.1:p.Val509IlefsTer9
ENST00000507765.1:n.1710_1722del
NM_001145853.1:c.1525_1537del NP_001139325.1:p.Val509IlefsTer9
NM_006005.3:c.1525_1537del MANE Select NP_005996.2:p.Val509IlefsTer9
XM_017008586.1:c.1534_1546del XP_016864075.1:p.Val512IlefsTer9