Canonical Allele Identifier: CA2360289975
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2011391067

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32428258dup , CM000682.2:g.32428258dup GRCh38
NC_000020.10:g.31016061dup , CM000682.1:g.31016061dup GRCh37
NC_000020.9:g.30479722dup NCBI36
NG_027868.1:g.74915dup , LRG_630:g.74915dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.373+10dup MANE Select ENSP00000364839.4:n.373+10dup
ENST00000470145.3:n.326dup
ENST00000643168.1:c.289+10dup ENSP00000495003.1:n.289+10dup
ENST00000644060.1:n.1177+10dup
ENST00000644587.1:c.*212+10dup ENSP00000494813.1:n.*212+10dup
ENST00000644615.1:n.77+10dup
ENST00000645514.1:n.131dup
ENST00000646985.1:c.343+10dup ENSP00000495053.1:n.343+10dup
ENST00000651418.1:c.373+10dup ENSP00000499150.1:n.373+10dup
ENST00000306058.9:c.358+10dup ENSP00000305119.5:n.358+10dup
ENST00000375687.8:c.373+10dup ENSP00000364839.4:n.373+10dup
ENST00000470145.2:n.326dup
ENST00000613218.4:c.373+10dup ENSP00000480487.1:n.373+10dup
ENST00000620121.4:c.373+10dup ENSP00000481978.1:n.373+10dup
NM_015338.5:c.373+10dup , LRG_630t1:c.373+10dup NP_056153.2:n.373+10dup
XM_006723727.2:c.370+10dup XP_006723790.1:n.370+10dup
XM_006723728.2:c.343+10dup XP_006723791.1:n.343+10dup
XM_006723730.2:c.289+10dup XP_006723793.1:n.289+10dup
XM_006723732.2:c.343+10dup XP_006723795.1:n.343+10dup
XM_011528647.1:c.637+10dup XP_011526949.1:n.637+10dup
XM_011528648.1:c.634+10dup XP_011526950.1:n.634+10dup
XM_011528649.1:c.553+10dup XP_011526951.1:n.553+10dup
XM_011528650.1:c.637+10dup XP_011526952.1:n.637+10dup
XM_011528651.1:c.352+10dup XP_011526953.1:n.352+10dup
XM_011528652.1:c.289+10dup XP_011526954.1:n.289+10dup
NM_001363734.1:c.343+10dup NP_001350663.1:n.343+10dup
XM_006723727.3:c.370+10dup XP_006723790.1:n.370+10dup
XM_006723728.3:c.343+10dup XP_006723791.1:n.343+10dup
XM_006723730.4:c.289+10dup XP_006723793.1:n.289+10dup
XM_011528648.3:c.634+10dup XP_011526950.1:n.634+10dup
XM_011528652.2:c.289+10dup XP_011526954.1:n.289+10dup
XM_017027704.1:c.289+10dup XP_016883193.1:n.289+10dup
XM_017027705.1:c.289+10dup XP_016883194.1:n.289+10dup
XM_017027706.1:c.373+10dup XP_016883195.1:n.373+10dup
NM_015338.6:c.373+10dup MANE Select NP_056153.2:n.373+10dup