Canonical Allele Identifier: CA2578035829
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301496_6301497del , CM000666.2:g.6301496_6301497del GRCh38
NC_000004.11:g.6303223_6303224del , CM000666.1:g.6303223_6303224del GRCh37
NC_000004.10:g.6354124_6354125del NCBI36
NG_011700.1:g.36647_36648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1737_1738del ENSP00000507852.1:p.Phe580CysfsTer?
ENST00000683395.1:c.1678_1679del
ENST00000684087.1:c.1701_1702del ENSP00000506978.1:p.Phe568CysfsTer?
ENST00000506362.2:c.1452_1453del ENSP00000424103.2:p.Phe485CysfsTer?
ENST00000673642.1:c.1360_1361del ENSP00000501242.1:n.1360_1361del
ENST00000673991.1:c.1737_1738del ENSP00000501033.1:p.Phe580CysfsTer?
ENST00000226760.5:c.1701_1702del MANE Select ENSP00000226760.1:p.Phe568CysfsTer?
ENST00000503569.5:c.1701_1702del ENSP00000423337.1:p.Phe568CysfsTer?
ENST00000507765.1:n.1886_1887del
NM_001145853.1:c.1701_1702del NP_001139325.1:p.Phe568CysfsTer?
NM_006005.3:c.1701_1702del MANE Select NP_005996.2:p.Phe568CysfsTer?
XM_017008586.1:c.1710_1711del XP_016864075.1:p.Phe571CysfsTer?