Canonical Allele Identifier: CA2816136698
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428677_32428678insGT , CM000682.2:g.32428677_32428678insGT GRCh38
NC_000020.10:g.31016480_31016481insGT , CM000682.1:g.31016480_31016481insGT GRCh37
NC_000020.9:g.30480141_30480142insGT NCBI36
NG_027868.1:g.75334_75335insGT , LRG_630:g.75334_75335insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.471+255_471+256insGT MANE Select ENSP00000364839.4:n.471+255_471+256insGT
ENST00000470145.3:n.490+255_490+256insGT
ENST00000643168.1:c.387+255_387+256insGT ENSP00000495003.1:n.387+255_387+256insGT
ENST00000644587.1:c.*310+255_*310+256insGT ENSP00000494813.1:n.*310+255_*310+256insGT
ENST00000644615.1:n.175+255_175+256insGT
ENST00000645514.1:n.295+255_295+256insGT
ENST00000646985.1:c.441+255_441+256insGT ENSP00000495053.1:n.441+255_441+256insGT
ENST00000651418.1:c.471+255_471+256insGT ENSP00000499150.1:n.471+255_471+256insGT
ENST00000306058.9:c.456+255_456+256insGT ENSP00000305119.5:n.456+255_456+256insGT
ENST00000375687.8:c.471+255_471+256insGT ENSP00000364839.4:n.471+255_471+256insGT
ENST00000470145.2:n.490+255_490+256insGT
ENST00000613218.4:c.471+255_471+256insGT ENSP00000480487.1:n.471+255_471+256insGT
ENST00000620121.4:c.471+255_471+256insGT ENSP00000481978.1:n.471+255_471+256insGT
NM_015338.5:c.471+255_471+256insGT , LRG_630t1:c.471+255_471+256insGT NP_056153.2:n.471+255_471+256insGT
XM_006723727.2:c.468+255_468+256insGT XP_006723790.1:n.468+255_468+256insGT
XM_006723728.2:c.441+255_441+256insGT XP_006723791.1:n.441+255_441+256insGT
XM_006723730.2:c.387+255_387+256insGT XP_006723793.1:n.387+255_387+256insGT
XM_006723732.2:c.441+255_441+256insGT XP_006723795.1:n.441+255_441+256insGT
XM_011528647.1:c.735+255_735+256insGT XP_011526949.1:n.735+255_735+256insGT
XM_011528648.1:c.732+255_732+256insGT XP_011526950.1:n.732+255_732+256insGT
XM_011528649.1:c.651+255_651+256insGT XP_011526951.1:n.651+255_651+256insGT
XM_011528650.1:c.735+255_735+256insGT XP_011526952.1:n.735+255_735+256insGT
XM_011528651.1:c.450+255_450+256insGT XP_011526953.1:n.450+255_450+256insGT
XM_011528652.1:c.387+255_387+256insGT XP_011526954.1:n.387+255_387+256insGT
NM_001363734.1:c.441+255_441+256insGT NP_001350663.1:n.441+255_441+256insGT
XM_006723727.3:c.468+255_468+256insGT XP_006723790.1:n.468+255_468+256insGT
XM_006723728.3:c.441+255_441+256insGT XP_006723791.1:n.441+255_441+256insGT
XM_006723730.4:c.387+255_387+256insGT XP_006723793.1:n.387+255_387+256insGT
XM_011528648.3:c.732+255_732+256insGT XP_011526950.1:n.732+255_732+256insGT
XM_011528652.2:c.387+255_387+256insGT XP_011526954.1:n.387+255_387+256insGT
XM_017027704.1:c.387+255_387+256insGT XP_016883193.1:n.387+255_387+256insGT
XM_017027705.1:c.387+255_387+256insGT XP_016883194.1:n.387+255_387+256insGT
XM_017027706.1:c.471+255_471+256insGT XP_016883195.1:n.471+255_471+256insGT
NM_015338.6:c.471+255_471+256insGT MANE Select NP_056153.2:n.471+255_471+256insGT