Canonical Allele Identifier: CA2760285227
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301550_6301554del , CM000666.2:g.6301550_6301554del GRCh38
NC_000004.11:g.6303277_6303281del , CM000666.1:g.6303277_6303281del GRCh37
NC_000004.10:g.6354178_6354182del NCBI36
NG_011700.1:g.36701_36705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1791_1795del ENSP00000507852.1:p.Phe597LeufsTer19
ENST00000683395.1:c.1732_1736del
ENST00000684087.1:c.1755_1759del ENSP00000506978.1:p.Phe585LeufsTer19
ENST00000506362.2:c.1506_1510del ENSP00000424103.2:p.Phe502LeufsTer19
ENST00000673642.1:c.1414_1418del ENSP00000501242.1:n.1414_1418del
ENST00000673991.1:c.1791_1795del ENSP00000501033.1:p.Phe597LeufsTer19
ENST00000226760.5:c.1755_1759del MANE Select ENSP00000226760.1:p.Phe585LeufsTer19
ENST00000503569.5:c.1755_1759del ENSP00000423337.1:p.Phe585LeufsTer19
ENST00000507765.1:n.1940_1944del
NM_001145853.1:c.1755_1759del NP_001139325.1:p.Phe585LeufsTer19
NM_006005.3:c.1755_1759del MANE Select NP_005996.2:p.Phe585LeufsTer19
XM_017008586.1:c.1764_1768del XP_016864075.1:p.Phe588LeufsTer19