Canonical Allele Identifier: CA2695233959
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48684302_48684312del , CM000685.2:g.48684302_48684312del GRCh38
NC_000023.10:g.48542691_48542701del , CM000685.1:g.48542691_48542701del GRCh37
NC_000023.9:g.48427635_48427645del NCBI36
NG_007877.1:g.5506_5516del , LRG_125:g.5506_5516del

Transcript Alleles

HGVS Amino-acid change
ENST00000483750.6:n.185_195del
ENST00000698625.1:c.152_162del ENSP00000513844.1:p.Val51AlafsTer8
ENST00000698626.1:c.152_162del ENSP00000513845.1:p.Val51AlafsTer8
ENST00000698635.1:c.152_162del ENSP00000513850.1:p.Val51AlafsTer8
ENST00000376701.5:c.152_162del MANE Select ENSP00000365891.4:p.Val51AlafsTer8
ENST00000376701.4:c.152_162del ENSP00000365891.4:p.Val51AlafsTer8
ENST00000450772.5:c.152_162del ENSP00000410537.1:p.Val51AlafsTer8
ENST00000465982.5:n.187_197del
ENST00000483750.5:n.178_188del
NM_000377.2:c.152_162del , LRG_125t1:c.152_162del NP_000368.1:p.Val51AlafsTer8
XM_011543977.1:c.152_162del XP_011542279.1:p.Val51AlafsTer8
XM_011543977.2:c.152_162del XP_011542279.1:p.Val51AlafsTer8
XM_017029786.1:c.152_162del XP_016885275.1:p.Val51AlafsTer8
NM_000377.3:c.152_162del MANE Select NP_000368.1:p.Val51AlafsTer8