Canonical Allele Identifier: CA2499226743
Community Standard Title: NM_000377.3(WAS):c.724del (p.Ser242ValfsTer19)
Gene: WAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48686945del , CM000685.2:g.48686945del GRCh38
NC_000023.10:g.48545334del , CM000685.1:g.48545334del GRCh37
NC_000023.9:g.48430278del NCBI36
NG_007877.1:g.8149del , LRG_125:g.8149del

Transcript Alleles

HGVS Amino-acid Change
NM_000377.3:c.724del MANE Select NP_000368.1:p.Ser242ValfsTer19
ENST00000376701.5:c.724del MANE Select ENSP00000365891.4:p.Ser242ValfsTer19
NM_000377.2:c.724del , LRG_125t1:c.724del NP_000368.1:p.Ser242ValfsTer19
ENST00000376701.4:c.724del ENSP00000365891.4:p.Ser242ValfsTer19
ENST00000465982.5:n.624del
ENST00000483750.5:n.750del
ENST00000483750.6:n.757del
ENST00000490627.1:n.154+811del
ENST00000490627.2:n.171+811del
ENST00000698625.1:c.724del ENSP00000513844.1:p.Ser242ValfsTer19
ENST00000698626.1:c.724del ENSP00000513845.1:p.Ser242ValfsTer19
ENST00000698635.1:c.724del ENSP00000513850.1:p.Ser242ValfsTer19
XM_011543977.1:c.724del XP_011542279.1:p.Ser242ValfsTer19
XM_011543977.2:c.724del XP_011542279.1:p.Ser242ValfsTer19
XM_017029786.1:c.724del XP_016885275.1:p.Ser242ValfsTer19