Canonical Allele Identifier: CA2695234044

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688076del , CM000685.2:g.48688076del	GRCh38
NC_000023.10:g.48546465del , CM000685.1:g.48546465del	GRCh37
NC_000023.9:g.48431409del	NCBI36
NG_007877.1:g.9280del , LRG_125:g.9280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.790del
ENST00000490627.2:n.194del
ENST00000698625.1:c.757del	ENSP00000513844.1:p.Asp253ThrfsTer8
ENST00000698626.1:c.757del	ENSP00000513845.1:p.Asp253ThrfsTer8
ENST00000698635.1:c.757del	ENSP00000513850.1:p.Asp253ThrfsTer8
ENST00000376701.5:c.757del MANE Select	ENSP00000365891.4:p.Asp253ThrfsTer8
ENST00000376701.4:c.757del	ENSP00000365891.4:p.Asp253ThrfsTer8
ENST00000465982.5:n.657del
ENST00000483750.5:n.783del
ENST00000490627.1:n.177del
NM_000377.2:c.757del , LRG_125t1:c.757del	NP_000368.1:p.Asp253ThrfsTer8
XM_011543977.1:c.757del	XP_011542279.1:p.Asp253ThrfsTer8
XM_011543977.2:c.757del	XP_011542279.1:p.Asp253ThrfsTer8
XM_017029786.1:c.757del	XP_016885275.1:p.Asp253ThrfsTer8
NM_000377.3:c.757del MANE Select	NP_000368.1:p.Asp253ThrfsTer8