Canonical Allele Identifier: CA2573158940
Gene: WAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1684406
dbSNP Id: rs2147265894

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688324del , CM000685.2:g.48688324del GRCh38
NC_000023.10:g.48546713del , CM000685.1:g.48546713del GRCh37
NC_000023.9:g.48431657del NCBI36
NG_007877.1:g.9528del , LRG_125:g.9528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.46del
ENST00000483750.6:n.1038del
ENST00000698625.1:c.802del ENSP00000513844.1:p.Arg268GlyfsTer?
ENST00000698626.1:c.802del ENSP00000513845.1:p.Arg268GlyfsTer?
ENST00000698635.1:c.802del ENSP00000513850.1:p.Arg268GlyfsTer?
ENST00000376701.5:c.802del MANE Select ENSP00000365891.4:p.Arg268GlyfsTer?
ENST00000376701.4:c.802del ENSP00000365891.4:p.Arg268GlyfsTer?
ENST00000474174.1:n.46del
NM_000377.2:c.802del , LRG_125t1:c.802del NP_000368.1:p.Arg268GlyfsTer?
XM_011543977.1:c.802del XP_011542279.1:p.Arg268GlyfsTer?
XM_011543977.2:c.802del XP_011542279.1:p.Arg268GlyfsTer?
XM_017029786.1:c.802del XP_016885275.1:p.Arg268GlyfsTer?
NM_000377.3:c.802del MANE Select NP_000368.1:p.Arg268GlyfsTer?