Canonical Allele Identifier: CA2816136692
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428663_32428664insC , CM000682.2:g.32428663_32428664insC GRCh38
NC_000020.10:g.31016466_31016467insC , CM000682.1:g.31016466_31016467insC GRCh37
NC_000020.9:g.30480127_30480128insC NCBI36
NG_027868.1:g.75320_75321insC , LRG_630:g.75320_75321insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.471+241_471+242insC MANE Select ENSP00000364839.4:n.471+241_471+242insC
ENST00000470145.3:n.490+241_490+242insC
ENST00000643168.1:c.387+241_387+242insC ENSP00000495003.1:n.387+241_387+242insC
ENST00000644587.1:c.*310+241_*310+242insC ENSP00000494813.1:n.*310+241_*310+242insC
ENST00000644615.1:n.175+241_175+242insC
ENST00000645514.1:n.295+241_295+242insC
ENST00000646985.1:c.441+241_441+242insC ENSP00000495053.1:n.441+241_441+242insC
ENST00000651418.1:c.471+241_471+242insC ENSP00000499150.1:n.471+241_471+242insC
ENST00000306058.9:c.456+241_456+242insC ENSP00000305119.5:n.456+241_456+242insC
ENST00000375687.8:c.471+241_471+242insC ENSP00000364839.4:n.471+241_471+242insC
ENST00000470145.2:n.490+241_490+242insC
ENST00000613218.4:c.471+241_471+242insC ENSP00000480487.1:n.471+241_471+242insC
ENST00000620121.4:c.471+241_471+242insC ENSP00000481978.1:n.471+241_471+242insC
NM_015338.5:c.471+241_471+242insC , LRG_630t1:c.471+241_471+242insC NP_056153.2:n.471+241_471+242insC
XM_006723727.2:c.468+241_468+242insC XP_006723790.1:n.468+241_468+242insC
XM_006723728.2:c.441+241_441+242insC XP_006723791.1:n.441+241_441+242insC
XM_006723730.2:c.387+241_387+242insC XP_006723793.1:n.387+241_387+242insC
XM_006723732.2:c.441+241_441+242insC XP_006723795.1:n.441+241_441+242insC
XM_011528647.1:c.735+241_735+242insC XP_011526949.1:n.735+241_735+242insC
XM_011528648.1:c.732+241_732+242insC XP_011526950.1:n.732+241_732+242insC
XM_011528649.1:c.651+241_651+242insC XP_011526951.1:n.651+241_651+242insC
XM_011528650.1:c.735+241_735+242insC XP_011526952.1:n.735+241_735+242insC
XM_011528651.1:c.450+241_450+242insC XP_011526953.1:n.450+241_450+242insC
XM_011528652.1:c.387+241_387+242insC XP_011526954.1:n.387+241_387+242insC
NM_001363734.1:c.441+241_441+242insC NP_001350663.1:n.441+241_441+242insC
XM_006723727.3:c.468+241_468+242insC XP_006723790.1:n.468+241_468+242insC
XM_006723728.3:c.441+241_441+242insC XP_006723791.1:n.441+241_441+242insC
XM_006723730.4:c.387+241_387+242insC XP_006723793.1:n.387+241_387+242insC
XM_011528648.3:c.732+241_732+242insC XP_011526950.1:n.732+241_732+242insC
XM_011528652.2:c.387+241_387+242insC XP_011526954.1:n.387+241_387+242insC
XM_017027704.1:c.387+241_387+242insC XP_016883193.1:n.387+241_387+242insC
XM_017027705.1:c.387+241_387+242insC XP_016883194.1:n.387+241_387+242insC
XM_017027706.1:c.471+241_471+242insC XP_016883195.1:n.471+241_471+242insC
NM_015338.6:c.471+241_471+242insC MANE Select NP_056153.2:n.471+241_471+242insC