Canonical Allele Identifier: CA2360290113
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428588_32428603delinsCAGTAGGTTTGAGCAG , CM000682.2:g.32428588_32428603delinsCAGTAGGTTTGAGCAG GRCh38
NC_000020.10:g.31016391_31016406delinsCAGTAGGTTTGAGCAG , CM000682.1:g.31016391_31016406delinsCAGTAGGTTTGAGCAG GRCh37
NC_000020.9:g.30480052_30480067delinsCAGTAGGTTTGAGCAG NCBI36
NG_027868.1:g.75245_75260delinsCAGTAGGTTTGAGCAG , LRG_630:g.75245_75260delinsCAGTAGGTTTGAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.471+166_471+181delinsCAGTAGGTTTGAGCAG MANE Select ENSP00000364839.4:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
ENST00000470145.3:n.490+166_490+181delinsCAGTAGGTTTGAGCAG
ENST00000643168.1:c.387+166_387+181delinsCAGTAGGTTTGAGCAG ENSP00000495003.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
ENST00000644587.1:c.*310+166_*310+181delinsCAGTAGGTTTGAGCAG ENSP00000494813.1:n.*310+166_*310+181delinsCAGTAGGTTTGAGCAG
ENST00000644615.1:n.175+166_175+181delinsCAGTAGGTTTGAGCAG
ENST00000645514.1:n.295+166_295+181delinsCAGTAGGTTTGAGCAG
ENST00000646985.1:c.441+166_441+181delinsCAGTAGGTTTGAGCAG ENSP00000495053.1:n.441+166_441+181delinsCAGTAGGTTTGAGCAG
ENST00000651418.1:c.471+166_471+181delinsCAGTAGGTTTGAGCAG ENSP00000499150.1:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
ENST00000306058.9:c.456+166_456+181delinsCAGTAGGTTTGAGCAG ENSP00000305119.5:n.456+166_456+181delinsCAGTAGGTTTGAGCAG
ENST00000375687.8:c.471+166_471+181delinsCAGTAGGTTTGAGCAG ENSP00000364839.4:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
ENST00000470145.2:n.490+166_490+181delinsCAGTAGGTTTGAGCAG
ENST00000613218.4:c.471+166_471+181delinsCAGTAGGTTTGAGCAG ENSP00000480487.1:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
ENST00000620121.4:c.471+166_471+181delinsCAGTAGGTTTGAGCAG ENSP00000481978.1:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
NM_015338.5:c.471+166_471+181delinsCAGTAGGTTTGAGCAG , LRG_630t1:c.471+166_471+181delinsCAGTAGGTTTGAGCAG NP_056153.2:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
XM_006723727.2:c.468+166_468+181delinsCAGTAGGTTTGAGCAG XP_006723790.1:n.468+166_468+181delinsCAGTAGGTTTGAGCAG
XM_006723728.2:c.441+166_441+181delinsCAGTAGGTTTGAGCAG XP_006723791.1:n.441+166_441+181delinsCAGTAGGTTTGAGCAG
XM_006723730.2:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_006723793.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
XM_006723732.2:c.441+166_441+181delinsCAGTAGGTTTGAGCAG XP_006723795.1:n.441+166_441+181delinsCAGTAGGTTTGAGCAG
XM_011528647.1:c.735+166_735+181delinsCAGTAGGTTTGAGCAG XP_011526949.1:n.735+166_735+181delinsCAGTAGGTTTGAGCAG
XM_011528648.1:c.732+166_732+181delinsCAGTAGGTTTGAGCAG XP_011526950.1:n.732+166_732+181delinsCAGTAGGTTTGAGCAG
XM_011528649.1:c.651+166_651+181delinsCAGTAGGTTTGAGCAG XP_011526951.1:n.651+166_651+181delinsCAGTAGGTTTGAGCAG
XM_011528650.1:c.735+166_735+181delinsCAGTAGGTTTGAGCAG XP_011526952.1:n.735+166_735+181delinsCAGTAGGTTTGAGCAG
XM_011528651.1:c.450+166_450+181delinsCAGTAGGTTTGAGCAG XP_011526953.1:n.450+166_450+181delinsCAGTAGGTTTGAGCAG
XM_011528652.1:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_011526954.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
NM_001363734.1:c.441+166_441+181delinsCAGTAGGTTTGAGCAG NP_001350663.1:n.441+166_441+181delinsCAGTAGGTTTGAGCAG
XM_006723727.3:c.468+166_468+181delinsCAGTAGGTTTGAGCAG XP_006723790.1:n.468+166_468+181delinsCAGTAGGTTTGAGCAG
XM_006723728.3:c.441+166_441+181delinsCAGTAGGTTTGAGCAG XP_006723791.1:n.441+166_441+181delinsCAGTAGGTTTGAGCAG
XM_006723730.4:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_006723793.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
XM_011528648.3:c.732+166_732+181delinsCAGTAGGTTTGAGCAG XP_011526950.1:n.732+166_732+181delinsCAGTAGGTTTGAGCAG
XM_011528652.2:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_011526954.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
XM_017027704.1:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_016883193.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
XM_017027705.1:c.387+166_387+181delinsCAGTAGGTTTGAGCAG XP_016883194.1:n.387+166_387+181delinsCAGTAGGTTTGAGCAG
XM_017027706.1:c.471+166_471+181delinsCAGTAGGTTTGAGCAG XP_016883195.1:n.471+166_471+181delinsCAGTAGGTTTGAGCAG
NM_015338.6:c.471+166_471+181delinsCAGTAGGTTTGAGCAG MANE Select NP_056153.2:n.471+166_471+181delinsCAGTAGGTTTGAGCAG