Canonical Allele Identifier: CA645515481
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291356_6291357del , CM000666.2:g.6291356_6291357del GRCh38
NC_000004.11:g.6293083_6293084del , CM000666.1:g.6293083_6293084del GRCh37
NC_000004.10:g.6343984_6343985del NCBI36
NG_011700.1:g.26507_26508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.620_621del ENSP00000507852.1:p.Val207GlufsTer?
ENST00000683395.1:c.608+2_608+3del
ENST00000684087.1:c.620_621del ENSP00000506978.1:p.Val207GlufsTer?
ENST00000684700.1:c.620_621del ENSP00000507806.1:p.Val207GlufsTer?
ENST00000506362.2:c.371_372del ENSP00000424103.2:p.Val124GlufsTer?
ENST00000673642.1:c.419_420del ENSP00000501242.1:p.Val140GlufsTer?
ENST00000673991.1:c.620_621del ENSP00000501033.1:p.Val207GlufsTer?
ENST00000226760.5:c.620_621del MANE Select ENSP00000226760.1:p.Val207GlufsTer?
ENST00000503569.5:c.620_621del ENSP00000423337.1:p.Val207GlufsTer?
ENST00000506362.1:c.217_218del
ENST00000507765.1:n.805_806del
NM_001145853.1:c.620_621del NP_001139325.1:p.Val207GlufsTer?
NM_006005.3:c.620_621del MANE Select NP_005996.2:p.Val207GlufsTer?
XM_017008586.1:c.629_630del XP_016864075.1:p.Val210GlufsTer?