Canonical Allele Identifier: CA2695200194

Gene: WAS

Linked Data

• ClinVar Variation Id: 2631416
• ClinVar RCV Id: RCV003404556

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688071_48688072delinsAA , CM000685.2:g.48688071_48688072delinsAA	GRCh38
NC_000023.10:g.48546460_48546461delinsAA , CM000685.1:g.48546460_48546461delinsAA	GRCh37
NC_000023.9:g.48431404_48431405delinsAA	NCBI36
NG_007877.1:g.9275_9276delinsAA , LRG_125:g.9275_9276delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.785_786delinsAA
ENST00000490627.2:n.189_190delinsAA
ENST00000698625.1:c.752_753delinsAA	ENSP00000513844.1:p.Gly251Glu
ENST00000698626.1:c.752_753delinsAA	ENSP00000513845.1:p.Gly251Glu
ENST00000698635.1:c.752_753delinsAA	ENSP00000513850.1:p.Gly251Glu
ENST00000376701.5:c.752_753delinsAA MANE Select	ENSP00000365891.4:p.Gly251Glu
ENST00000376701.4:c.752_753delinsAA	ENSP00000365891.4:p.Gly251Glu
ENST00000465982.5:n.652_653delinsAA
ENST00000483750.5:n.778_779delinsAA
ENST00000490627.1:n.172_173delinsAA
NM_000377.2:c.752_753delinsAA , LRG_125t1:c.752_753delinsAA	NP_000368.1:p.Gly251Glu
XM_011543977.1:c.752_753delinsAA	XP_011542279.1:p.Gly251Glu
XM_011543977.2:c.752_753delinsAA	XP_011542279.1:p.Gly251Glu
XM_017029786.1:c.752_753delinsAA	XP_016885275.1:p.Gly251Glu
NM_000377.3:c.752_753delinsAA MANE Select	NP_000368.1:p.Gly251Glu