Canonical Allele Identifier: CA2760283929
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291481_6291488del , CM000666.2:g.6291481_6291488del GRCh38
NC_000004.11:g.6293208_6293215del , CM000666.1:g.6293208_6293215del GRCh37
NC_000004.10:g.6344109_6344116del NCBI36
NG_011700.1:g.26632_26639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+114_631+121del ENSP00000507852.1:n.631+114_631+121del
ENST00000683395.1:c.608+127_608+134del
ENST00000684087.1:c.631+114_631+121del ENSP00000506978.1:n.631+114_631+121del
ENST00000684700.1:c.*40_*47del ENSP00000507806.1:n.*40_*47del
ENST00000506362.2:c.382+114_382+121del ENSP00000424103.2:n.382+114_382+121del
ENST00000673642.1:c.430+114_430+121del ENSP00000501242.1:n.430+114_430+121del
ENST00000673991.1:c.631+114_631+121del ENSP00000501033.1:n.631+114_631+121del
ENST00000226760.5:c.631+114_631+121del MANE Select ENSP00000226760.1:n.631+114_631+121del
ENST00000503569.5:c.631+114_631+121del ENSP00000423337.1:n.631+114_631+121del
ENST00000506362.1:c.228+114_228+121del
ENST00000507765.1:n.816+114_816+121del
NM_001145853.1:c.631+114_631+121del NP_001139325.1:n.631+114_631+121del
NM_006005.3:c.631+114_631+121del MANE Select NP_005996.2:n.631+114_631+121del
XM_017008586.1:c.640+114_640+121del XP_016864075.1:n.640+114_640+121del