Canonical Allele Identifier: CA2760285106
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301319_6301320insA , CM000666.2:g.6301319_6301320insA GRCh38
NC_000004.11:g.6303046_6303047insA , CM000666.1:g.6303046_6303047insA GRCh37
NC_000004.10:g.6353947_6353948insA NCBI36
NG_011700.1:g.36470_36471insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1560_1561insA ENSP00000507852.1:p.Val521SerfsTer?
ENST00000683395.1:c.1501_1502insA
ENST00000684087.1:c.1524_1525insA ENSP00000506978.1:p.Val509SerfsTer?
ENST00000506362.2:c.1275_1276insA ENSP00000424103.2:p.Val426SerfsTer?
ENST00000673642.1:c.1183_1184insA ENSP00000501242.1:p.Cys395Ter
ENST00000673991.1:c.1560_1561insA ENSP00000501033.1:p.Val521SerfsTer?
ENST00000226760.5:c.1524_1525insA MANE Select ENSP00000226760.1:p.Val509SerfsTer?
ENST00000503569.5:c.1524_1525insA ENSP00000423337.1:p.Val509SerfsTer?
ENST00000507765.1:n.1709_1710insA
NM_001145853.1:c.1524_1525insA NP_001139325.1:p.Val509SerfsTer?
NM_006005.3:c.1524_1525insA MANE Select NP_005996.2:p.Val509SerfsTer?
XM_017008586.1:c.1533_1534insA XP_016864075.1:p.Val512SerfsTer?