Canonical Allele Identifier: CA2695234055
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688387del , CM000685.2:g.48688387del GRCh38
NC_000023.10:g.48546776del , CM000685.1:g.48546776del GRCh37
NC_000023.9:g.48431720del NCBI36
NG_007877.1:g.9591del , LRG_125:g.9591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.109del
ENST00000698625.1:c.865del ENSP00000513844.1:p.Ile290SerfsTer18
ENST00000698626.1:c.865del ENSP00000513845.1:p.Ile290SerfsTer18
ENST00000698635.1:c.865del ENSP00000513850.1:p.Ile290SerfsTer18
ENST00000376701.5:c.865del MANE Select ENSP00000365891.4:p.Ile290SerfsTer18
ENST00000376701.4:c.865del ENSP00000365891.4:p.Ile290SerfsTer18
ENST00000474174.1:n.109del
NM_000377.2:c.865del , LRG_125t1:c.865del NP_000368.1:p.Ile290SerfsTer18
XM_011543977.1:c.865del XP_011542279.1:p.Ile290SerfsTer18
XM_011543977.2:c.865del XP_011542279.1:p.Ile290SerfsTer18
XM_017029786.1:c.865del XP_016885275.1:p.Ile290SerfsTer18
NM_000377.3:c.865del MANE Select NP_000368.1:p.Ile290SerfsTer18