Canonical Allele Identifier: CA1435771696
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730927791

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301707_6301730del , CM000666.2:g.6301707_6301730del GRCh38
NC_000004.11:g.6303434_6303457del , CM000666.1:g.6303434_6303457del GRCh37
NC_000004.10:g.6354335_6354358del NCBI36
NG_011700.1:g.36858_36881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1948_1971del ENSP00000507852.1:p.Val650_Leu657del
ENST00000683395.1:c.1889_1912del
ENST00000684087.1:c.1912_1935del ENSP00000506978.1:p.Val638_Leu645del
ENST00000506362.2:c.1663_1686del ENSP00000424103.2:p.Val555_Leu562del
ENST00000673642.1:c.1571_1594del ENSP00000501242.1:n.1571_1594del
ENST00000673991.1:c.1948_1971del ENSP00000501033.1:p.Val650_Leu657del
ENST00000226760.5:c.1912_1935del MANE Select ENSP00000226760.1:p.Val638_Leu645del
ENST00000503569.5:c.1912_1935del ENSP00000423337.1:p.Val638_Leu645del
ENST00000507765.1:n.2097_2120del
NM_001145853.1:c.1912_1935del NP_001139325.1:p.Val638_Leu645del
NM_006005.3:c.1912_1935del MANE Select NP_005996.2:p.Val638_Leu645del
XM_017008586.1:c.1921_1944del XP_016864075.1:p.Val641_Leu648del