Canonical Allele Identifier: CA2816136705
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428685_32428686insTTTTT , CM000682.2:g.32428685_32428686insTTTTT GRCh38
NC_000020.10:g.31016488_31016489insTTTTT , CM000682.1:g.31016488_31016489insTTTTT GRCh37
NC_000020.9:g.30480149_30480150insTTTTT NCBI36
NG_027868.1:g.75342_75343insTTTTT , LRG_630:g.75342_75343insTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.471+263_471+264insTTTTT MANE Select ENSP00000364839.4:n.471+263_471+264insTTTTT
ENST00000470145.3:n.490+263_490+264insTTTTT
ENST00000643168.1:c.387+263_387+264insTTTTT ENSP00000495003.1:n.387+263_387+264insTTTTT
ENST00000644587.1:c.*310+263_*310+264insTTTTT ENSP00000494813.1:n.*310+263_*310+264insTTTTT
ENST00000644615.1:n.175+263_175+264insTTTTT
ENST00000645514.1:n.295+263_295+264insTTTTT
ENST00000646985.1:c.441+263_441+264insTTTTT ENSP00000495053.1:n.441+263_441+264insTTTTT
ENST00000651418.1:c.471+263_471+264insTTTTT ENSP00000499150.1:n.471+263_471+264insTTTTT
ENST00000306058.9:c.456+263_456+264insTTTTT ENSP00000305119.5:n.456+263_456+264insTTTTT
ENST00000375687.8:c.471+263_471+264insTTTTT ENSP00000364839.4:n.471+263_471+264insTTTTT
ENST00000470145.2:n.490+263_490+264insTTTTT
ENST00000613218.4:c.471+263_471+264insTTTTT ENSP00000480487.1:n.471+263_471+264insTTTTT
ENST00000620121.4:c.471+263_471+264insTTTTT ENSP00000481978.1:n.471+263_471+264insTTTTT
NM_015338.5:c.471+263_471+264insTTTTT , LRG_630t1:c.471+263_471+264insTTTTT NP_056153.2:n.471+263_471+264insTTTTT
XM_006723727.2:c.468+263_468+264insTTTTT XP_006723790.1:n.468+263_468+264insTTTTT
XM_006723728.2:c.441+263_441+264insTTTTT XP_006723791.1:n.441+263_441+264insTTTTT
XM_006723730.2:c.387+263_387+264insTTTTT XP_006723793.1:n.387+263_387+264insTTTTT
XM_006723732.2:c.441+263_441+264insTTTTT XP_006723795.1:n.441+263_441+264insTTTTT
XM_011528647.1:c.735+263_735+264insTTTTT XP_011526949.1:n.735+263_735+264insTTTTT
XM_011528648.1:c.732+263_732+264insTTTTT XP_011526950.1:n.732+263_732+264insTTTTT
XM_011528649.1:c.651+263_651+264insTTTTT XP_011526951.1:n.651+263_651+264insTTTTT
XM_011528650.1:c.735+263_735+264insTTTTT XP_011526952.1:n.735+263_735+264insTTTTT
XM_011528651.1:c.450+263_450+264insTTTTT XP_011526953.1:n.450+263_450+264insTTTTT
XM_011528652.1:c.387+263_387+264insTTTTT XP_011526954.1:n.387+263_387+264insTTTTT
NM_001363734.1:c.441+263_441+264insTTTTT NP_001350663.1:n.441+263_441+264insTTTTT
XM_006723727.3:c.468+263_468+264insTTTTT XP_006723790.1:n.468+263_468+264insTTTTT
XM_006723728.3:c.441+263_441+264insTTTTT XP_006723791.1:n.441+263_441+264insTTTTT
XM_006723730.4:c.387+263_387+264insTTTTT XP_006723793.1:n.387+263_387+264insTTTTT
XM_011528648.3:c.732+263_732+264insTTTTT XP_011526950.1:n.732+263_732+264insTTTTT
XM_011528652.2:c.387+263_387+264insTTTTT XP_011526954.1:n.387+263_387+264insTTTTT
XM_017027704.1:c.387+263_387+264insTTTTT XP_016883193.1:n.387+263_387+264insTTTTT
XM_017027705.1:c.387+263_387+264insTTTTT XP_016883194.1:n.387+263_387+264insTTTTT
XM_017027706.1:c.471+263_471+264insTTTTT XP_016883195.1:n.471+263_471+264insTTTTT
NM_015338.6:c.471+263_471+264insTTTTT MANE Select NP_056153.2:n.471+263_471+264insTTTTT