Canonical Allele Identifier: CA2541233143
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428271_32428272insCC , CM000682.2:g.32428271_32428272insCC GRCh38
NC_000020.10:g.31016074_31016075insCC , CM000682.1:g.31016074_31016075insCC GRCh37
NC_000020.9:g.30479735_30479736insCC NCBI36
NG_027868.1:g.74928_74929insCC , LRG_630:g.74928_74929insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.373+23_373+24insCC MANE Select ENSP00000364839.4:n.373+23_373+24insCC
ENST00000470145.3:n.339_340insCC
ENST00000643168.1:c.289+23_289+24insCC ENSP00000495003.1:n.289+23_289+24insCC
ENST00000644060.1:n.1177+23_1177+24insCC
ENST00000644587.1:c.*212+23_*212+24insCC ENSP00000494813.1:n.*212+23_*212+24insCC
ENST00000644615.1:n.77+23_77+24insCC
ENST00000645514.1:n.144_145insCC
ENST00000646985.1:c.343+23_343+24insCC ENSP00000495053.1:n.343+23_343+24insCC
ENST00000651418.1:c.373+23_373+24insCC ENSP00000499150.1:n.373+23_373+24insCC
ENST00000306058.9:c.358+23_358+24insCC ENSP00000305119.5:n.358+23_358+24insCC
ENST00000375687.8:c.373+23_373+24insCC ENSP00000364839.4:n.373+23_373+24insCC
ENST00000470145.2:n.339_340insCC
ENST00000613218.4:c.373+23_373+24insCC ENSP00000480487.1:n.373+23_373+24insCC
ENST00000620121.4:c.373+23_373+24insCC ENSP00000481978.1:n.373+23_373+24insCC
NM_015338.5:c.373+23_373+24insCC , LRG_630t1:c.373+23_373+24insCC NP_056153.2:n.373+23_373+24insCC
XM_006723727.2:c.370+23_370+24insCC XP_006723790.1:n.370+23_370+24insCC
XM_006723728.2:c.343+23_343+24insCC XP_006723791.1:n.343+23_343+24insCC
XM_006723730.2:c.289+23_289+24insCC XP_006723793.1:n.289+23_289+24insCC
XM_006723732.2:c.343+23_343+24insCC XP_006723795.1:n.343+23_343+24insCC
XM_011528647.1:c.637+23_637+24insCC XP_011526949.1:n.637+23_637+24insCC
XM_011528648.1:c.634+23_634+24insCC XP_011526950.1:n.634+23_634+24insCC
XM_011528649.1:c.553+23_553+24insCC XP_011526951.1:n.553+23_553+24insCC
XM_011528650.1:c.637+23_637+24insCC XP_011526952.1:n.637+23_637+24insCC
XM_011528651.1:c.352+23_352+24insCC XP_011526953.1:n.352+23_352+24insCC
XM_011528652.1:c.289+23_289+24insCC XP_011526954.1:n.289+23_289+24insCC
NM_001363734.1:c.343+23_343+24insCC NP_001350663.1:n.343+23_343+24insCC
XM_006723727.3:c.370+23_370+24insCC XP_006723790.1:n.370+23_370+24insCC
XM_006723728.3:c.343+23_343+24insCC XP_006723791.1:n.343+23_343+24insCC
XM_006723730.4:c.289+23_289+24insCC XP_006723793.1:n.289+23_289+24insCC
XM_011528648.3:c.634+23_634+24insCC XP_011526950.1:n.634+23_634+24insCC
XM_011528652.2:c.289+23_289+24insCC XP_011526954.1:n.289+23_289+24insCC
XM_017027704.1:c.289+23_289+24insCC XP_016883193.1:n.289+23_289+24insCC
XM_017027705.1:c.289+23_289+24insCC XP_016883194.1:n.289+23_289+24insCC
XM_017027706.1:c.373+23_373+24insCC XP_016883195.1:n.373+23_373+24insCC
NM_015338.6:c.373+23_373+24insCC MANE Select NP_056153.2:n.373+23_373+24insCC