Canonical Allele Identifier: CA2534768052

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683871_48683872insCG , CM000685.2:g.48683871_48683872insCG	GRCh38
NC_000023.10:g.48542260_48542261insCG , CM000685.1:g.48542260_48542261insCG	GRCh37
NC_000023.9:g.48427204_48427205insCG	NCBI36
NG_007877.1:g.5075_5076insCG , LRG_125:g.5075_5076insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.51_52insCG
ENST00000698625.1:c.18_19insCG	ENSP00000513844.1:p.Gly7ArgfsTer?
ENST00000698626.1:c.18_19insCG	ENSP00000513845.1:p.Gly7ArgfsTer?
ENST00000698635.1:c.18_19insCG	ENSP00000513850.1:p.Gly7ArgfsTer?
ENST00000376701.5:c.18_19insCG MANE Select	ENSP00000365891.4:p.Gly7ArgfsTer?
ENST00000376701.4:c.18_19insCG	ENSP00000365891.4:p.Gly7ArgfsTer?
ENST00000450772.5:c.18_19insCG	ENSP00000410537.1:p.Gly7ArgfsTer?
ENST00000465982.5:n.53_54insCG
ENST00000483750.5:n.44_45insCG
NM_000377.2:c.18_19insCG , LRG_125t1:c.18_19insCG	NP_000368.1:p.Gly7ArgfsTer?
XM_011543977.1:c.18_19insCG	XP_011542279.1:p.Gly7ArgfsTer?
XM_011543977.2:c.18_19insCG	XP_011542279.1:p.Gly7ArgfsTer?
XM_017029786.1:c.18_19insCG	XP_016885275.1:p.Gly7ArgfsTer?
NM_000377.3:c.18_19insCG MANE Select	NP_000368.1:p.Gly7ArgfsTer?