Canonical Allele Identifier: CA2693643907

Gene: WAS

Linked Data

• gnomAD v4: X-48688077-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688082del , CM000685.2:g.48688082del	GRCh38
NC_000023.10:g.48546471del , CM000685.1:g.48546471del	GRCh37
NC_000023.9:g.48431415del	NCBI36
NG_007877.1:g.9286del , LRG_125:g.9286del

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.796del
ENST00000490627.2:n.200del
ENST00000698625.1:c.763del	ENSP00000513844.1:p.Gln255ArgfsTer6
ENST00000698626.1:c.763del	ENSP00000513845.1:p.Gln255ArgfsTer6
ENST00000698635.1:c.763del	ENSP00000513850.1:p.Gln255ArgfsTer6
ENST00000376701.5:c.763del MANE Select	ENSP00000365891.4:p.Gln255ArgfsTer6
ENST00000376701.4:c.763del	ENSP00000365891.4:p.Gln255ArgfsTer6
ENST00000465982.5:n.663del
ENST00000483750.5:n.789del
ENST00000490627.1:n.183del
NM_000377.2:c.763del , LRG_125t1:c.763del	NP_000368.1:p.Gln255ArgfsTer6
XM_011543977.1:c.763del	XP_011542279.1:p.Gln255ArgfsTer6
XM_011543977.2:c.763del	XP_011542279.1:p.Gln255ArgfsTer6
XM_017029786.1:c.763del	XP_016885275.1:p.Gln255ArgfsTer6
NM_000377.3:c.763del MANE Select	NP_000368.1:p.Gln255ArgfsTer6