Canonical Allele Identifier: CA2499225721

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32434482_32434485dup , CM000682.2:g.32434482_32434485dup	GRCh38
NC_000020.10:g.31022285_31022288dup , CM000682.1:g.31022285_31022288dup	GRCh37
NC_000020.9:g.30485946_30485949dup	NCBI36
NG_027868.1:g.81139_81142dup , LRG_630:g.81139_81142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1770_1773dup MANE Select	ENSP00000364839.4:p.Gln592LeufsTer28
ENST00000644168.1:n.1312_1315dup
ENST00000646985.1:c.1587_1590dup	ENSP00000495053.1:p.Gln531LeufsTer28
ENST00000647223.1:n.4123_4126dup
ENST00000651418.1:c.1770_1773dup	ENSP00000499150.1:p.Gln592LeufsTer28
ENST00000306058.9:c.1755_1758dup	ENSP00000305119.5:p.Gln587LeufsTer28
ENST00000375687.8:c.1770_1773dup	ENSP00000364839.4:p.Gln592LeufsTer28
ENST00000613218.4:c.1770_1773dup	ENSP00000480487.1:p.Gln592LeufsTer28
ENST00000620121.4:c.1770_1773dup	ENSP00000481978.1:p.Gln592LeufsTer28
NM_015338.5:c.1770_1773dup , LRG_630t1:c.1770_1773dup	NP_056153.2:p.Gln592LeufsTer28
XM_006723727.2:c.1767_1770dup	XP_006723790.1:p.Gln591LeufsTer28
XM_006723728.2:c.1740_1743dup	XP_006723791.1:p.Gln582LeufsTer28
XM_006723730.2:c.1686_1689dup	XP_006723793.1:p.Gln564LeufsTer28
XM_006723732.2:c.1587_1590dup	XP_006723795.1:p.Gln531LeufsTer28
XM_006723733.1:c.1086_1089dup	XP_006723796.1:p.Gln364LeufsTer28
XM_011528647.1:c.2034_2037dup	XP_011526949.1:p.Gln680LeufsTer28
XM_011528648.1:c.2031_2034dup	XP_011526950.1:p.Gln679LeufsTer28
XM_011528649.1:c.1950_1953dup	XP_011526951.1:p.Gln652LeufsTer28
XM_011528650.1:c.1881_1884dup	XP_011526952.1:p.Gln629LeufsTer28
XM_011528651.1:c.1749_1752dup	XP_011526953.1:p.Gln585LeufsTer28
XM_011528652.1:c.1686_1689dup	XP_011526954.1:p.Gln564LeufsTer28
NM_001363734.1:c.1587_1590dup	NP_001350663.1:p.Gln531LeufsTer28
XM_006723727.3:c.1767_1770dup	XP_006723790.1:p.Gln591LeufsTer28
XM_006723728.3:c.1740_1743dup	XP_006723791.1:p.Gln582LeufsTer28
XM_006723730.4:c.1686_1689dup	XP_006723793.1:p.Gln564LeufsTer28
XM_011528648.3:c.2031_2034dup	XP_011526950.1:p.Gln679LeufsTer28
XM_011528652.2:c.1686_1689dup	XP_011526954.1:p.Gln564LeufsTer28
XM_017027704.1:c.1686_1689dup	XP_016883193.1:p.Gln564LeufsTer28
XM_017027705.1:c.1686_1689dup	XP_016883194.1:p.Gln564LeufsTer28
XM_017027706.1:c.1617_1620dup	XP_016883195.1:p.Gln541LeufsTer28
NM_015338.6:c.1770_1773dup MANE Select	NP_056153.2:p.Gln592LeufsTer28