Canonical Allele Identifier: CA2740092132

Gene: WAS

Linked Data

• ClinVar Variation Id: 2945495
• ClinVar RCV Id: RCV003803589

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688108del , CM000685.2:g.48688108del	GRCh38
NC_000023.10:g.48546497del , CM000685.1:g.48546497del	GRCh37
NC_000023.9:g.48431441del	NCBI36
NG_007877.1:g.9312del , LRG_125:g.9312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.822del
ENST00000490627.2:n.226del
ENST00000698625.1:c.777+12del	ENSP00000513844.1:n.777+12del
ENST00000698626.1:c.777+12del	ENSP00000513845.1:n.777+12del
ENST00000698635.1:c.777+12del	ENSP00000513850.1:n.777+12del
ENST00000376701.5:c.777+12del MANE Select	ENSP00000365891.4:n.777+12del
ENST00000376701.4:c.777+12del	ENSP00000365891.4:n.777+12del
ENST00000465982.5:n.689del
ENST00000483750.5:n.815del
ENST00000490627.1:n.209del
NM_000377.2:c.777+12del , LRG_125t1:c.777+12del	NP_000368.1:n.777+12del
XM_011543977.1:c.777+12del	XP_011542279.1:n.777+12del
XM_011543977.2:c.777+12del	XP_011542279.1:n.777+12del
XM_017029786.1:c.777+12del	XP_016885275.1:n.777+12del
NM_000377.3:c.777+12del MANE Select	NP_000368.1:n.777+12del