Canonical Allele Identifier: CA2695233762

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688748dup , CM000685.2:g.48688748dup	GRCh38
NC_000023.10:g.48547137dup , CM000685.1:g.48547137dup	GRCh37
NC_000023.9:g.48432081dup	NCBI36
NG_007877.1:g.9952dup , LRG_125:g.9952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.264dup
ENST00000698625.1:c.1020dup	ENSP00000513844.1:p.Pro341SerfsTer?
ENST00000698626.1:c.1020dup	ENSP00000513845.1:p.Pro341SerfsTer?
ENST00000698635.1:c.1020dup	ENSP00000513850.1:p.Pro341SerfsTer?
ENST00000376701.5:c.1020dup MANE Select	ENSP00000365891.4:p.Pro341SerfsTer?
ENST00000376701.4:c.1020dup	ENSP00000365891.4:p.Pro341SerfsTer?
ENST00000474174.1:n.264dup
NM_000377.2:c.1020dup , LRG_125t1:c.1020dup	NP_000368.1:p.Pro341SerfsTer?
XM_011543977.1:c.932-68dup	XP_011542279.1:n.932-68dup
XM_011543977.2:c.932-68dup	XP_011542279.1:n.932-68dup
XM_017029786.1:c.1020dup	XP_016885275.1:p.Pro341SerfsTer?
NM_000377.3:c.1020dup MANE Select	NP_000368.1:p.Pro341SerfsTer?