Canonical Allele Identifier: CA1435772235
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730858576

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300822_6300835del , CM000666.2:g.6300822_6300835del GRCh38
NC_000004.11:g.6302549_6302562del , CM000666.1:g.6302549_6302562del GRCh37
NC_000004.10:g.6353450_6353463del NCBI36
NG_011700.1:g.35973_35986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1063_1076del ENSP00000507852.1:p.Phe355GlyfsTer?
ENST00000683395.1:c.1004_1017del
ENST00000684087.1:c.1027_1040del ENSP00000506978.1:p.Phe343GlyfsTer?
ENST00000506362.2:c.778_791del ENSP00000424103.2:p.Phe260GlyfsTer?
ENST00000673642.1:c.686_699del ENSP00000501242.1:p.Leu229ArgfsTer12
ENST00000673991.1:c.1063_1076del ENSP00000501033.1:p.Phe355GlyfsTer?
ENST00000226760.5:c.1027_1040del MANE Select ENSP00000226760.1:p.Phe343GlyfsTer?
ENST00000503569.5:c.1027_1040del ENSP00000423337.1:p.Phe343GlyfsTer?
ENST00000506362.1:c.660_673del
ENST00000507765.1:n.1212_1225del
NM_001145853.1:c.1027_1040del NP_001139325.1:p.Phe343GlyfsTer?
NM_006005.3:c.1027_1040del MANE Select NP_005996.2:p.Phe343GlyfsTer?
XM_017008586.1:c.1036_1049del XP_016864075.1:p.Phe346GlyfsTer?