Canonical Allele Identifier: CA2573158939

Gene: WAS

Linked Data

• ClinVar Variation Id: 1515772
• ClinVar RCV Id: RCV002023444
• dbSNP Id: rs2147265723
• gnomAD v4: X-48688101-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688102dup , CM000685.2:g.48688102dup	GRCh38
NC_000023.10:g.48546491dup , CM000685.1:g.48546491dup	GRCh37
NC_000023.9:g.48431435dup	NCBI36
NG_007877.1:g.9306dup , LRG_125:g.9306dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.816dup
ENST00000490627.2:n.220dup
ENST00000698625.1:c.777+6dup	ENSP00000513844.1:n.777+6dup
ENST00000698626.1:c.777+6dup	ENSP00000513845.1:n.777+6dup
ENST00000698635.1:c.777+6dup	ENSP00000513850.1:n.777+6dup
ENST00000376701.5:c.777+6dup MANE Select	ENSP00000365891.4:n.777+6dup
ENST00000376701.4:c.777+6dup	ENSP00000365891.4:n.777+6dup
ENST00000465982.5:n.683dup
ENST00000483750.5:n.809dup
ENST00000490627.1:n.203dup
NM_000377.2:c.777+6dup , LRG_125t1:c.777+6dup	NP_000368.1:n.777+6dup
XM_011543977.1:c.777+6dup	XP_011542279.1:n.777+6dup
XM_011543977.2:c.777+6dup	XP_011542279.1:n.777+6dup
XM_017029786.1:c.777+6dup	XP_016885275.1:n.777+6dup
NM_000377.3:c.777+6dup MANE Select	NP_000368.1:n.777+6dup