Canonical Allele Identifier: CA2695234056
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688394_48688396delinsCA , CM000685.2:g.48688394_48688396delinsCA GRCh38
NC_000023.10:g.48546783_48546785delinsCA , CM000685.1:g.48546783_48546785delinsCA GRCh37
NC_000023.9:g.48431727_48431729delinsCA NCBI36
NG_007877.1:g.9598_9600delinsCA , LRG_125:g.9598_9600delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.116_118delinsCA
ENST00000698625.1:c.872_874delinsCA ENSP00000513844.1:p.Tyr291SerfsTer17
ENST00000698626.1:c.872_874delinsCA ENSP00000513845.1:p.Tyr291SerfsTer17
ENST00000698635.1:c.872_874delinsCA ENSP00000513850.1:p.Tyr291SerfsTer17
ENST00000376701.5:c.872_874delinsCA MANE Select ENSP00000365891.4:p.Tyr291SerfsTer17
ENST00000376701.4:c.872_874delinsCA ENSP00000365891.4:p.Tyr291SerfsTer17
ENST00000474174.1:n.116_118delinsCA
NM_000377.2:c.872_874delinsCA , LRG_125t1:c.872_874delinsCA NP_000368.1:p.Tyr291SerfsTer17
XM_011543977.1:c.872_874delinsCA XP_011542279.1:p.Tyr291SerfsTer17
XM_011543977.2:c.872_874delinsCA XP_011542279.1:p.Tyr291SerfsTer17
XM_017029786.1:c.872_874delinsCA XP_016885275.1:p.Tyr291SerfsTer17
NM_000377.3:c.872_874delinsCA MANE Select NP_000368.1:p.Tyr291SerfsTer17