Canonical Allele Identifier: CA2554207897
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428262_32428263insCG , CM000682.2:g.32428262_32428263insCG GRCh38
NC_000020.10:g.31016065_31016066insCG , CM000682.1:g.31016065_31016066insCG GRCh37
NC_000020.9:g.30479726_30479727insCG NCBI36
NG_027868.1:g.74919_74920insCG , LRG_630:g.74919_74920insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.373+14_373+15insCG MANE Select ENSP00000364839.4:n.373+14_373+15insCG
ENST00000470145.3:n.330_331insCG
ENST00000643168.1:c.289+14_289+15insCG ENSP00000495003.1:n.289+14_289+15insCG
ENST00000644060.1:n.1177+14_1177+15insCG
ENST00000644587.1:c.*212+14_*212+15insCG ENSP00000494813.1:n.*212+14_*212+15insCG
ENST00000644615.1:n.77+14_77+15insCG
ENST00000645514.1:n.135_136insCG
ENST00000646985.1:c.343+14_343+15insCG ENSP00000495053.1:n.343+14_343+15insCG
ENST00000651418.1:c.373+14_373+15insCG ENSP00000499150.1:n.373+14_373+15insCG
ENST00000306058.9:c.358+14_358+15insCG ENSP00000305119.5:n.358+14_358+15insCG
ENST00000375687.8:c.373+14_373+15insCG ENSP00000364839.4:n.373+14_373+15insCG
ENST00000470145.2:n.330_331insCG
ENST00000613218.4:c.373+14_373+15insCG ENSP00000480487.1:n.373+14_373+15insCG
ENST00000620121.4:c.373+14_373+15insCG ENSP00000481978.1:n.373+14_373+15insCG
NM_015338.5:c.373+14_373+15insCG , LRG_630t1:c.373+14_373+15insCG NP_056153.2:n.373+14_373+15insCG
XM_006723727.2:c.370+14_370+15insCG XP_006723790.1:n.370+14_370+15insCG
XM_006723728.2:c.343+14_343+15insCG XP_006723791.1:n.343+14_343+15insCG
XM_006723730.2:c.289+14_289+15insCG XP_006723793.1:n.289+14_289+15insCG
XM_006723732.2:c.343+14_343+15insCG XP_006723795.1:n.343+14_343+15insCG
XM_011528647.1:c.637+14_637+15insCG XP_011526949.1:n.637+14_637+15insCG
XM_011528648.1:c.634+14_634+15insCG XP_011526950.1:n.634+14_634+15insCG
XM_011528649.1:c.553+14_553+15insCG XP_011526951.1:n.553+14_553+15insCG
XM_011528650.1:c.637+14_637+15insCG XP_011526952.1:n.637+14_637+15insCG
XM_011528651.1:c.352+14_352+15insCG XP_011526953.1:n.352+14_352+15insCG
XM_011528652.1:c.289+14_289+15insCG XP_011526954.1:n.289+14_289+15insCG
NM_001363734.1:c.343+14_343+15insCG NP_001350663.1:n.343+14_343+15insCG
XM_006723727.3:c.370+14_370+15insCG XP_006723790.1:n.370+14_370+15insCG
XM_006723728.3:c.343+14_343+15insCG XP_006723791.1:n.343+14_343+15insCG
XM_006723730.4:c.289+14_289+15insCG XP_006723793.1:n.289+14_289+15insCG
XM_011528648.3:c.634+14_634+15insCG XP_011526950.1:n.634+14_634+15insCG
XM_011528652.2:c.289+14_289+15insCG XP_011526954.1:n.289+14_289+15insCG
XM_017027704.1:c.289+14_289+15insCG XP_016883193.1:n.289+14_289+15insCG
XM_017027705.1:c.289+14_289+15insCG XP_016883194.1:n.289+14_289+15insCG
XM_017027706.1:c.373+14_373+15insCG XP_016883195.1:n.373+14_373+15insCG
NM_015338.6:c.373+14_373+15insCG MANE Select NP_056153.2:n.373+14_373+15insCG