Canonical Allele Identifier: CA2695233947
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48683935del , CM000685.2:g.48683935del GRCh38
NC_000023.10:g.48542324del , CM000685.1:g.48542324del GRCh37
NC_000023.9:g.48427268del NCBI36
NG_007877.1:g.5139del , LRG_125:g.5139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000483750.6:n.115del
ENST00000698625.1:c.82del ENSP00000513844.1:p.Gln28ArgfsTer17
ENST00000698626.1:c.82del ENSP00000513845.1:p.Gln28ArgfsTer17
ENST00000698635.1:c.82del ENSP00000513850.1:p.Gln28ArgfsTer17
ENST00000376701.5:c.82del MANE Select ENSP00000365891.4:p.Gln28ArgfsTer17
ENST00000376701.4:c.82del ENSP00000365891.4:p.Gln28ArgfsTer17
ENST00000450772.5:c.82del ENSP00000410537.1:p.Gln28ArgfsTer17
ENST00000465982.5:n.117del
ENST00000483750.5:n.108del
NM_000377.2:c.82del , LRG_125t1:c.82del NP_000368.1:p.Gln28ArgfsTer17
XM_011543977.1:c.82del XP_011542279.1:p.Gln28ArgfsTer17
XM_011543977.2:c.82del XP_011542279.1:p.Gln28ArgfsTer17
XM_017029786.1:c.82del XP_016885275.1:p.Gln28ArgfsTer17
NM_000377.3:c.82del MANE Select NP_000368.1:p.Gln28ArgfsTer17