Canonical Allele Identifier: CA10404002

Gene: WAS

Linked Data

• dbSNP Id: rs782256212
• ExAC: X:48546844 T / TGA
• gnomAD v2: X-48546844-T-TGA
• gnomAD v3: X-48688455-T-TGA
• gnomAD v4: X-48688455-T-TGA
• MyVariant Identifiers: chrX:g.48546844_48546845insGA (hg19) ; chrX:g.48688455_48688456insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688458_48688459dup , CM000685.2:g.48688458_48688459dup	GRCh38
NC_000023.10:g.48546847_48546848dup , CM000685.1:g.48546847_48546848dup	GRCh37
NC_000023.9:g.48431791_48431792dup	NCBI36
NG_007877.1:g.9662_9663dup , LRG_125:g.9662_9663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.175+5_175+6dup
ENST00000698625.1:c.931+5_931+6dup	ENSP00000513844.1:n.931+5_931+6dup
ENST00000698626.1:c.931+5_931+6dup	ENSP00000513845.1:n.931+5_931+6dup
ENST00000698635.1:c.931+5_931+6dup	ENSP00000513850.1:n.931+5_931+6dup
ENST00000376701.5:c.931+5_931+6dup MANE Select	ENSP00000365891.4:n.931+5_931+6dup
ENST00000376701.4:c.931+5_931+6dup	ENSP00000365891.4:n.931+5_931+6dup
ENST00000474174.1:n.175+5_175+6dup
NM_000377.2:c.931+5_931+6dup , LRG_125t1:c.931+5_931+6dup	NP_000368.1:n.931+5_931+6dup
XM_011543977.1:c.931+5_931+6dup	XP_011542279.1:n.931+5_931+6dup
XM_011543977.2:c.931+5_931+6dup	XP_011542279.1:n.931+5_931+6dup
XM_017029786.1:c.931+5_931+6dup	XP_016885275.1:n.931+5_931+6dup
NM_000377.3:c.931+5_931+6dup MANE Select	NP_000368.1:n.931+5_931+6dup