Canonical Allele Identifier: CA2739290493
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688094del , CM000685.2:g.48688094del GRCh38
NC_000023.10:g.48546483del , CM000685.1:g.48546483del GRCh37
NC_000023.9:g.48431427del NCBI36
NG_007877.1:g.9298del , LRG_125:g.9298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.808del
ENST00000490627.2:n.212del
ENST00000698625.1:c.775del ENSP00000513844.1:p.Asp259ThrfsTer2
ENST00000698626.1:c.775del ENSP00000513845.1:p.Asp259ThrfsTer2
ENST00000698635.1:c.775del ENSP00000513850.1:p.Asp259ThrfsTer2
ENST00000376701.5:c.775del MANE Select ENSP00000365891.4:p.Asp259ThrfsTer2
ENST00000376701.4:c.775del ENSP00000365891.4:p.Asp259ThrfsTer2
ENST00000465982.5:n.675del
ENST00000483750.5:n.801del
ENST00000490627.1:n.195del
NM_000377.2:c.775del , LRG_125t1:c.775del NP_000368.1:p.Asp259ThrfsTer2
XM_011543977.1:c.775del XP_011542279.1:p.Asp259ThrfsTer2
XM_011543977.2:c.775del XP_011542279.1:p.Asp259ThrfsTer2
XM_017029786.1:c.775del XP_016885275.1:p.Asp259ThrfsTer2
NM_000377.3:c.775del MANE Select NP_000368.1:p.Asp259ThrfsTer2