Canonical Allele Identifier: CA641511439

Gene: WAS

Linked Data

• dbSNP Id: rs1557007395
• gnomAD v2: X-48547580-GT-G
• gnomAD v3: X-48689191-GT-G
• gnomAD v4: X-48689191-GT-G
• MyVariant Identifiers: chrX:g.48547581del (hg19) ; chrX:g.48689192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689193del , CM000685.2:g.48689193del	GRCh38
NC_000023.10:g.48547582del , CM000685.1:g.48547582del	GRCh37
NC_000023.9:g.48432526del	NCBI36
NG_007877.1:g.10397del , LRG_125:g.10397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.583-127del
ENST00000698625.1:c.1339-127del	ENSP00000513844.1:n.1339-127del
ENST00000698626.1:c.1339-127del	ENSP00000513845.1:n.1339-127del
ENST00000698635.1:c.1339-127del	ENSP00000513850.1:n.1339-127del
ENST00000376701.5:c.1339-127del MANE Select	ENSP00000365891.4:n.1339-127del
ENST00000376701.4:c.1339-127del	ENSP00000365891.4:n.1339-127del
ENST00000470107.1:n.48-127del
NM_000377.2:c.1339-127del , LRG_125t1:c.1339-127del	NP_000368.1:n.1339-127del
XM_011543977.1:c.1183-127del	XP_011542279.1:n.1183-127del
XM_011543977.2:c.1183-127del	XP_011542279.1:n.1183-127del
XM_017029786.1:c.1339-127del	XP_016885275.1:n.1339-127del
NM_000377.3:c.1339-127del MANE Select	NP_000368.1:n.1339-127del