Canonical Allele Identifier: CA2693643194

Gene: WAS

Linked Data

• gnomAD v4: X-48689134-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689140dup , CM000685.2:g.48689140dup	GRCh38
NC_000023.10:g.48547529dup , CM000685.1:g.48547529dup	GRCh37
NC_000023.9:g.48432473dup	NCBI36
NG_007877.1:g.10344dup , LRG_125:g.10344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.582+74dup
ENST00000698625.1:c.1338+74dup	ENSP00000513844.1:n.1338+74dup
ENST00000698626.1:c.1338+74dup	ENSP00000513845.1:n.1338+74dup
ENST00000698635.1:c.1338+74dup	ENSP00000513850.1:n.1338+74dup
ENST00000376701.5:c.1338+74dup MANE Select	ENSP00000365891.4:n.1338+74dup
ENST00000376701.4:c.1338+74dup	ENSP00000365891.4:n.1338+74dup
ENST00000470107.1:n.47+74dup
NM_000377.2:c.1338+74dup , LRG_125t1:c.1338+74dup	NP_000368.1:n.1338+74dup
XM_011543977.1:c.1182+74dup	XP_011542279.1:n.1182+74dup
XM_011543977.2:c.1182+74dup	XP_011542279.1:n.1182+74dup
XM_017029786.1:c.1338+74dup	XP_016885275.1:n.1338+74dup
NM_000377.3:c.1338+74dup MANE Select	NP_000368.1:n.1338+74dup