Canonical Allele Identifier: CA2693644719

Gene: WAS

Linked Data

• gnomAD v4: X-48688820-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688825dup , CM000685.2:g.48688825dup	GRCh38
NC_000023.10:g.48547214dup , CM000685.1:g.48547214dup	GRCh37
NC_000023.9:g.48432158dup	NCBI36
NG_007877.1:g.10029dup , LRG_125:g.10029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.341dup
ENST00000698625.1:c.1097dup	ENSP00000513844.1:p.Pro368SerfsTer?
ENST00000698626.1:c.1097dup	ENSP00000513845.1:p.Pro368SerfsTer?
ENST00000698635.1:c.1097dup	ENSP00000513850.1:p.Pro368SerfsTer?
ENST00000376701.5:c.1097dup MANE Select	ENSP00000365891.4:p.Pro368SerfsTer?
ENST00000376701.4:c.1097dup	ENSP00000365891.4:p.Pro368SerfsTer?
ENST00000474174.1:n.341dup
NM_000377.2:c.1097dup , LRG_125t1:c.1097dup	NP_000368.1:p.Pro368SerfsTer?
XM_011543977.1:c.941dup	XP_011542279.1:p.Pro316SerfsTer?
XM_011543977.2:c.941dup	XP_011542279.1:p.Pro316SerfsTer?
XM_017029786.1:c.1097dup	XP_016885275.1:p.Pro368SerfsTer?
NM_000377.3:c.1097dup MANE Select	NP_000368.1:p.Pro368SerfsTer?