Canonical Allele Identifier: CA2501157837

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683863_48683864insTTGTT , CM000685.2:g.48683863_48683864insTTGTT	GRCh38
NC_000023.10:g.48542252_48542253insTTGTT , CM000685.1:g.48542252_48542253insTTGTT	GRCh37
NC_000023.9:g.48427196_48427197insTTGTT	NCBI36
NG_007877.1:g.5067_5068insTTGTT , LRG_125:g.5067_5068insTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.43_44insTTGTT
ENST00000698625.1:c.10_11insTTGTT	ENSP00000513844.1:p.Gly4ValfsTer?
ENST00000698626.1:c.10_11insTTGTT	ENSP00000513845.1:p.Gly4ValfsTer?
ENST00000698635.1:c.10_11insTTGTT	ENSP00000513850.1:p.Gly4ValfsTer?
ENST00000376701.5:c.10_11insTTGTT MANE Select	ENSP00000365891.4:p.Gly4ValfsTer?
ENST00000376701.4:c.10_11insTTGTT	ENSP00000365891.4:p.Gly4ValfsTer?
ENST00000450772.5:c.10_11insTTGTT	ENSP00000410537.1:p.Gly4ValfsTer?
ENST00000465982.5:n.45_46insTTGTT
ENST00000483750.5:n.36_37insTTGTT
NM_000377.2:c.10_11insTTGTT , LRG_125t1:c.10_11insTTGTT	NP_000368.1:p.Gly4ValfsTer?
XM_011543977.1:c.10_11insTTGTT	XP_011542279.1:p.Gly4ValfsTer?
XM_011543977.2:c.10_11insTTGTT	XP_011542279.1:p.Gly4ValfsTer?
XM_017029786.1:c.10_11insTTGTT	XP_016885275.1:p.Gly4ValfsTer?
NM_000377.3:c.10_11insTTGTT MANE Select	NP_000368.1:p.Gly4ValfsTer?