Canonical Allele Identifier: CA2760284125
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291588_6291590del , CM000666.2:g.6291588_6291590del GRCh38
NC_000004.11:g.6293315_6293317del , CM000666.1:g.6293315_6293317del GRCh37
NC_000004.10:g.6344216_6344218del NCBI36
NG_011700.1:g.26739_26741del

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+221_631+223del ENSP00000507852.1:n.631+221_631+223del
ENST00000683395.1:c.608+234_608+236del
ENST00000684087.1:c.631+221_631+223del ENSP00000506978.1:n.631+221_631+223del
ENST00000684700.1:c.*147_*149del ENSP00000507806.1:n.*147_*149del
ENST00000506362.2:c.382+221_382+223del ENSP00000424103.2:n.382+221_382+223del
ENST00000673642.1:c.430+221_430+223del ENSP00000501242.1:n.430+221_430+223del
ENST00000673991.1:c.631+221_631+223del ENSP00000501033.1:n.631+221_631+223del
ENST00000226760.5:c.631+221_631+223del MANE Select ENSP00000226760.1:n.631+221_631+223del
ENST00000503569.5:c.631+221_631+223del ENSP00000423337.1:n.631+221_631+223del
ENST00000506362.1:c.228+221_228+223del
ENST00000507765.1:n.816+221_816+223del
NM_001145853.1:c.631+221_631+223del NP_001139325.1:n.631+221_631+223del
NM_006005.3:c.631+221_631+223del MANE Select NP_005996.2:n.631+221_631+223del
XM_017008586.1:c.640+221_640+223del XP_016864075.1:n.640+221_640+223del