Canonical Allele Identifier: CA2816136693
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428664_32428665insC , CM000682.2:g.32428664_32428665insC GRCh38
NC_000020.10:g.31016467_31016468insC , CM000682.1:g.31016467_31016468insC GRCh37
NC_000020.9:g.30480128_30480129insC NCBI36
NG_027868.1:g.75321_75322insC , LRG_630:g.75321_75322insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.471+242_471+243insC MANE Select ENSP00000364839.4:n.471+242_471+243insC
ENST00000470145.3:n.490+242_490+243insC
ENST00000643168.1:c.387+242_387+243insC ENSP00000495003.1:n.387+242_387+243insC
ENST00000644587.1:c.*310+242_*310+243insC ENSP00000494813.1:n.*310+242_*310+243insC
ENST00000644615.1:n.175+242_175+243insC
ENST00000645514.1:n.295+242_295+243insC
ENST00000646985.1:c.441+242_441+243insC ENSP00000495053.1:n.441+242_441+243insC
ENST00000651418.1:c.471+242_471+243insC ENSP00000499150.1:n.471+242_471+243insC
ENST00000306058.9:c.456+242_456+243insC ENSP00000305119.5:n.456+242_456+243insC
ENST00000375687.8:c.471+242_471+243insC ENSP00000364839.4:n.471+242_471+243insC
ENST00000470145.2:n.490+242_490+243insC
ENST00000613218.4:c.471+242_471+243insC ENSP00000480487.1:n.471+242_471+243insC
ENST00000620121.4:c.471+242_471+243insC ENSP00000481978.1:n.471+242_471+243insC
NM_015338.5:c.471+242_471+243insC , LRG_630t1:c.471+242_471+243insC NP_056153.2:n.471+242_471+243insC
XM_006723727.2:c.468+242_468+243insC XP_006723790.1:n.468+242_468+243insC
XM_006723728.2:c.441+242_441+243insC XP_006723791.1:n.441+242_441+243insC
XM_006723730.2:c.387+242_387+243insC XP_006723793.1:n.387+242_387+243insC
XM_006723732.2:c.441+242_441+243insC XP_006723795.1:n.441+242_441+243insC
XM_011528647.1:c.735+242_735+243insC XP_011526949.1:n.735+242_735+243insC
XM_011528648.1:c.732+242_732+243insC XP_011526950.1:n.732+242_732+243insC
XM_011528649.1:c.651+242_651+243insC XP_011526951.1:n.651+242_651+243insC
XM_011528650.1:c.735+242_735+243insC XP_011526952.1:n.735+242_735+243insC
XM_011528651.1:c.450+242_450+243insC XP_011526953.1:n.450+242_450+243insC
XM_011528652.1:c.387+242_387+243insC XP_011526954.1:n.387+242_387+243insC
NM_001363734.1:c.441+242_441+243insC NP_001350663.1:n.441+242_441+243insC
XM_006723727.3:c.468+242_468+243insC XP_006723790.1:n.468+242_468+243insC
XM_006723728.3:c.441+242_441+243insC XP_006723791.1:n.441+242_441+243insC
XM_006723730.4:c.387+242_387+243insC XP_006723793.1:n.387+242_387+243insC
XM_011528648.3:c.732+242_732+243insC XP_011526950.1:n.732+242_732+243insC
XM_011528652.2:c.387+242_387+243insC XP_011526954.1:n.387+242_387+243insC
XM_017027704.1:c.387+242_387+243insC XP_016883193.1:n.387+242_387+243insC
XM_017027705.1:c.387+242_387+243insC XP_016883194.1:n.387+242_387+243insC
XM_017027706.1:c.471+242_471+243insC XP_016883195.1:n.471+242_471+243insC
NM_015338.6:c.471+242_471+243insC MANE Select NP_056153.2:n.471+242_471+243insC