Canonical Allele Identifier: CA2549879564

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683857_48683858insAATCC , CM000685.2:g.48683857_48683858insAATCC	GRCh38
NC_000023.10:g.48542246_48542247insAATCC , CM000685.1:g.48542246_48542247insAATCC	GRCh37
NC_000023.9:g.48427190_48427191insAATCC	NCBI36
NG_007877.1:g.5061_5062insAATCC , LRG_125:g.5061_5062insAATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.37_38insAATCC
ENST00000698625.1:c.4_5insAATCC	ENSP00000513844.1:p.Ser2LysfsTer?
ENST00000698626.1:c.4_5insAATCC	ENSP00000513845.1:p.Ser2LysfsTer?
ENST00000698635.1:c.4_5insAATCC	ENSP00000513850.1:p.Ser2LysfsTer?
ENST00000376701.5:c.4_5insAATCC MANE Select	ENSP00000365891.4:p.Ser2LysfsTer?
ENST00000376701.4:c.4_5insAATCC	ENSP00000365891.4:p.Ser2LysfsTer?
ENST00000450772.5:c.4_5insAATCC	ENSP00000410537.1:p.Ser2LysfsTer?
ENST00000465982.5:n.39_40insAATCC
ENST00000483750.5:n.30_31insAATCC
NM_000377.2:c.4_5insAATCC , LRG_125t1:c.4_5insAATCC	NP_000368.1:p.Ser2LysfsTer?
XM_011543977.1:c.4_5insAATCC	XP_011542279.1:p.Ser2LysfsTer?
XM_011543977.2:c.4_5insAATCC	XP_011542279.1:p.Ser2LysfsTer?
XM_017029786.1:c.4_5insAATCC	XP_016885275.1:p.Ser2LysfsTer?
NM_000377.3:c.4_5insAATCC MANE Select	NP_000368.1:p.Ser2LysfsTer?