Canonical Allele Identifier: CA2695234043

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688060dup , CM000685.2:g.48688060dup	GRCh38
NC_000023.10:g.48546449dup , CM000685.1:g.48546449dup	GRCh37
NC_000023.9:g.48431393dup	NCBI36
NG_007877.1:g.9264dup , LRG_125:g.9264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.774dup
ENST00000490627.2:n.178dup
ENST00000698625.1:c.741dup	ENSP00000513844.1:p.Ser248GlnfsTer12
ENST00000698626.1:c.741dup	ENSP00000513845.1:p.Ser248GlnfsTer12
ENST00000698635.1:c.741dup	ENSP00000513850.1:p.Ser248GlnfsTer12
ENST00000376701.5:c.741dup MANE Select	ENSP00000365891.4:p.Ser248GlnfsTer12
ENST00000376701.4:c.741dup	ENSP00000365891.4:p.Ser248GlnfsTer12
ENST00000465982.5:n.641dup
ENST00000483750.5:n.767dup
ENST00000490627.1:n.161dup
NM_000377.2:c.741dup , LRG_125t1:c.741dup	NP_000368.1:p.Ser248GlnfsTer12
XM_011543977.1:c.741dup	XP_011542279.1:p.Ser248GlnfsTer12
XM_011543977.2:c.741dup	XP_011542279.1:p.Ser248GlnfsTer12
XM_017029786.1:c.741dup	XP_016885275.1:p.Ser248GlnfsTer12
NM_000377.3:c.741dup MANE Select	NP_000368.1:p.Ser248GlnfsTer12