Canonical Allele Identifier: CA2578035823
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301492_6301495del , CM000666.2:g.6301492_6301495del GRCh38
NC_000004.11:g.6303219_6303222del , CM000666.1:g.6303219_6303222del GRCh37
NC_000004.10:g.6354120_6354123del NCBI36
NG_011700.1:g.36643_36646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1733_1736del ENSP00000507852.1:p.Phe578SerfsTer?
ENST00000683395.1:c.1674_1677del
ENST00000684087.1:c.1697_1700del ENSP00000506978.1:p.Phe566SerfsTer?
ENST00000506362.2:c.1448_1451del ENSP00000424103.2:p.Phe483SerfsTer?
ENST00000673642.1:c.1356_1359del ENSP00000501242.1:n.1356_1359del
ENST00000673991.1:c.1733_1736del ENSP00000501033.1:p.Phe578SerfsTer?
ENST00000226760.5:c.1697_1700del MANE Select ENSP00000226760.1:p.Phe566SerfsTer?
ENST00000503569.5:c.1697_1700del ENSP00000423337.1:p.Phe566SerfsTer?
ENST00000507765.1:n.1882_1885del
NM_001145853.1:c.1697_1700del NP_001139325.1:p.Phe566SerfsTer?
NM_006005.3:c.1697_1700del MANE Select NP_005996.2:p.Phe566SerfsTer?
XM_017008586.1:c.1706_1709del XP_016864075.1:p.Phe569SerfsTer?