Canonical Allele Identifier: CA2695234045
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688083del , CM000685.2:g.48688083del GRCh38
NC_000023.10:g.48546472del , CM000685.1:g.48546472del GRCh37
NC_000023.9:g.48431416del NCBI36
NG_007877.1:g.9287del , LRG_125:g.9287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.797del
ENST00000490627.2:n.201del
ENST00000698625.1:c.764del ENSP00000513844.1:p.Gln255ArgfsTer6
ENST00000698626.1:c.764del ENSP00000513845.1:p.Gln255ArgfsTer6
ENST00000698635.1:c.764del ENSP00000513850.1:p.Gln255ArgfsTer6
ENST00000376701.5:c.764del MANE Select ENSP00000365891.4:p.Gln255ArgfsTer6
ENST00000376701.4:c.764del ENSP00000365891.4:p.Gln255ArgfsTer6
ENST00000465982.5:n.664del
ENST00000483750.5:n.790del
ENST00000490627.1:n.184del
NM_000377.2:c.764del , LRG_125t1:c.764del NP_000368.1:p.Gln255ArgfsTer6
XM_011543977.1:c.764del XP_011542279.1:p.Gln255ArgfsTer6
XM_011543977.2:c.764del XP_011542279.1:p.Gln255ArgfsTer6
XM_017029786.1:c.764del XP_016885275.1:p.Gln255ArgfsTer6
NM_000377.3:c.764del MANE Select NP_000368.1:p.Gln255ArgfsTer6