Canonical Allele Identifier: CA2973929626

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428171dup , CM000682.2:g.32428171dup	GRCh38
NC_000020.10:g.31015974dup , CM000682.1:g.31015974dup	GRCh37
NC_000020.9:g.30479635dup	NCBI36
NG_027868.1:g.74828dup , LRG_630:g.74828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.296dup MANE Select	ENSP00000364839.4:p.Glu100ArgfsTer8
ENST00000470145.3:n.239dup
ENST00000643168.1:c.212dup	ENSP00000495003.1:p.Glu72ArgfsTer8
ENST00000644060.1:n.1100dup
ENST00000644587.1:c.*135dup	ENSP00000494813.1:n.*135dup
ENST00000645514.1:n.44dup
ENST00000645688.1:c.212dup	ENSP00000495488.1:p.Glu72ArgfsTer?
ENST00000646985.1:c.266dup	ENSP00000495053.1:p.Glu90ArgfsTer8
ENST00000651418.1:c.296dup	ENSP00000499150.1:p.Glu100ArgfsTer8
ENST00000306058.9:c.281dup	ENSP00000305119.5:p.Glu95ArgfsTer8
ENST00000375687.8:c.296dup	ENSP00000364839.4:p.Glu100ArgfsTer8
ENST00000470145.2:n.239dup
ENST00000613218.4:c.296dup	ENSP00000480487.1:p.Glu100ArgfsTer8
ENST00000620121.4:c.296dup	ENSP00000481978.1:p.Glu100ArgfsTer8
NM_015338.5:c.296dup , LRG_630t1:c.296dup	NP_056153.2:p.Glu100ArgfsTer8
XM_006723727.2:c.293dup	XP_006723790.1:p.Glu99ArgfsTer8
XM_006723728.2:c.266dup	XP_006723791.1:p.Glu90ArgfsTer8
XM_006723730.2:c.212dup	XP_006723793.1:p.Glu72ArgfsTer8
XM_006723732.2:c.266dup	XP_006723795.1:p.Glu90ArgfsTer8
XM_011528647.1:c.560dup	XP_011526949.1:p.Glu188ArgfsTer8
XM_011528648.1:c.557dup	XP_011526950.1:p.Glu187ArgfsTer8
XM_011528649.1:c.476dup	XP_011526951.1:p.Glu160ArgfsTer8
XM_011528650.1:c.560dup	XP_011526952.1:p.Glu188ArgfsTer8
XM_011528651.1:c.275dup	XP_011526953.1:p.Glu93ArgfsTer8
XM_011528652.1:c.212dup	XP_011526954.1:p.Glu72ArgfsTer8
NM_001363734.1:c.266dup	NP_001350663.1:p.Glu90ArgfsTer8
XM_006723727.3:c.293dup	XP_006723790.1:p.Glu99ArgfsTer8
XM_006723728.3:c.266dup	XP_006723791.1:p.Glu90ArgfsTer8
XM_006723730.4:c.212dup	XP_006723793.1:p.Glu72ArgfsTer8
XM_011528648.3:c.557dup	XP_011526950.1:p.Glu187ArgfsTer8
XM_011528652.2:c.212dup	XP_011526954.1:p.Glu72ArgfsTer8
XM_017027704.1:c.212dup	XP_016883193.1:p.Glu72ArgfsTer8
XM_017027705.1:c.212dup	XP_016883194.1:p.Glu72ArgfsTer8
XM_017027706.1:c.296dup	XP_016883195.1:p.Glu100ArgfsTer8
NM_015338.6:c.296dup MANE Select	NP_056153.2:p.Glu100ArgfsTer8