Canonical Allele Identifier: CA641901768

Gene: WAS

Linked Data

• dbSNP Id: rs1557007256
• gnomAD v2: X-48547296-GCCA-G
• gnomAD v4: X-48688907-GCCA-G
• MyVariant Identifiers: chrX:g.48547297_48547299del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688916_48688918del , CM000685.2:g.48688916_48688918del	GRCh38
NC_000023.10:g.48547305_48547307del , CM000685.1:g.48547305_48547307del	GRCh37
NC_000023.9:g.48432249_48432251del	NCBI36
NG_007877.1:g.10120_10122del , LRG_125:g.10120_10122del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474174.2:n.432_434del
ENST00000698625.1:c.1188_1190del	ENSP00000513844.1:p.Pro397del
ENST00000698626.1:c.1188_1190del	ENSP00000513845.1:p.Pro397del
ENST00000698635.1:c.1188_1190del	ENSP00000513850.1:p.Pro397del
ENST00000376701.5:c.1188_1190del MANE Select	ENSP00000365891.4:p.Pro397del
ENST00000376701.4:c.1188_1190del	ENSP00000365891.4:p.Pro397del
ENST00000474174.1:n.432_434del
NM_000377.2:c.1188_1190del , LRG_125t1:c.1188_1190del	NP_000368.1:p.Pro397del
XM_011543977.1:c.1032_1034del	XP_011542279.1:p.Pro345del
XM_011543977.2:c.1032_1034del	XP_011542279.1:p.Pro345del
XM_017029786.1:c.1188_1190del	XP_016885275.1:p.Pro397del
NM_000377.3:c.1188_1190del MANE Select	NP_000368.1:p.Pro397del