Canonical Allele Identifier: CA314093128

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32359051dup , CM000682.2:g.32359051dup	GRCh38
NC_000020.10:g.30946854dup , CM000682.1:g.30946854dup	GRCh37
NC_000020.9:g.30410515dup	NCBI36
NG_027868.1:g.5708dup , LRG_630:g.5708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.57+219dup MANE Select	ENSP00000364839.4:n.57+219dup
ENST00000644587.1:c.57+219dup	ENSP00000494813.1:n.57+219dup
ENST00000645337.1:c.57+219dup	ENSP00000494077.1:n.57+219dup
ENST00000646367.1:c.57+219dup	ENSP00000493987.1:n.57+219dup
ENST00000649901.1:c.-841dup	ENSP00000497010.1:n.-841dup
ENST00000651418.1:c.57+219dup	ENSP00000499150.1:n.57+219dup
ENST00000375687.8:c.57+219dup	ENSP00000364839.4:n.57+219dup
ENST00000497249.5:c.22+219dup
ENST00000542461.5:c.57+219dup	ENSP00000438654.2:n.57+219dup
ENST00000613218.4:c.57+219dup	ENSP00000480487.1:n.57+219dup
ENST00000620121.4:c.57+219dup	ENSP00000481978.1:n.57+219dup
NM_001164603.1:c.57+219dup , LRG_630t2:c.57+219dup	NP_001158075.1:n.57+219dup
NM_015338.5:c.57+219dup , LRG_630t1:c.57+219dup	NP_056153.2:n.57+219dup
XM_006723727.2:c.57+219dup	XP_006723790.1:n.57+219dup
XM_011528647.1:c.38dup	XP_011526949.1:p.Pro14AlafsTer5
XM_011528648.1:c.38dup	XP_011526950.1:p.Pro14AlafsTer5
XM_011528649.1:c.38dup	XP_011526951.1:p.Pro14AlafsTer5
XM_011528650.1:c.38dup	XP_011526952.1:p.Pro14AlafsTer5
XM_006723727.3:c.57+219dup	XP_006723790.1:n.57+219dup
XM_011528648.3:c.38dup	XP_011526950.1:p.Pro14AlafsTer5
XM_017027706.1:c.57+219dup	XP_016883195.1:n.57+219dup
NM_015338.6:c.57+219dup MANE Select	NP_056153.2:n.57+219dup