Canonical Allele Identifier: CA2736726658
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145378454

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435886del , CM000682.2:g.32435886del GRCh38
NC_000020.10:g.31023689del , CM000682.1:g.31023689del GRCh37
NC_000020.9:g.30487350del NCBI36
NG_027868.1:g.82543del , LRG_630:g.82543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3174del MANE Select ENSP00000364839.4:p.Met1059TrpfsTer?
ENST00000646985.1:c.2991del ENSP00000495053.1:p.Met998TrpfsTer?
ENST00000647223.1:n.5527del
ENST00000651418.1:c.1869+1305del ENSP00000499150.1:n.1869+1305del
ENST00000306058.9:c.3159del ENSP00000305119.5:p.Met1054TrpfsTer?
ENST00000375687.8:c.3174del ENSP00000364839.4:p.Met1059TrpfsTer?
ENST00000613218.4:c.3174del ENSP00000480487.1:p.Met1059TrpfsTer?
ENST00000620121.4:c.3174del ENSP00000481978.1:p.Met1059TrpfsTer?
NM_015338.5:c.3174del , LRG_630t1:c.3174del NP_056153.2:p.Met1059TrpfsTer?
XM_006723727.2:c.3171del XP_006723790.1:p.Met1058TrpfsTer?
XM_006723728.2:c.3144del XP_006723791.1:p.Met1049TrpfsTer?
XM_006723730.2:c.3090del XP_006723793.1:p.Met1031TrpfsTer?
XM_006723732.2:c.2991del XP_006723795.1:p.Met998TrpfsTer?
XM_006723733.1:c.2490del XP_006723796.1:p.Met831TrpfsTer?
XM_011528647.1:c.3438del XP_011526949.1:p.Met1147TrpfsTer?
XM_011528648.1:c.3435del XP_011526950.1:p.Met1146TrpfsTer?
XM_011528649.1:c.3354del XP_011526951.1:p.Met1119TrpfsTer?
XM_011528650.1:c.3285del XP_011526952.1:p.Met1096TrpfsTer?
XM_011528651.1:c.3153del XP_011526953.1:p.Met1052TrpfsTer?
XM_011528652.1:c.3090del XP_011526954.1:p.Met1031TrpfsTer?
NM_001363734.1:c.2991del NP_001350663.1:p.Met998TrpfsTer?
XM_006723727.3:c.3171del XP_006723790.1:p.Met1058TrpfsTer?
XM_006723728.3:c.3144del XP_006723791.1:p.Met1049TrpfsTer?
XM_006723730.4:c.3090del XP_006723793.1:p.Met1031TrpfsTer?
XM_011528648.3:c.3435del XP_011526950.1:p.Met1146TrpfsTer?
XM_011528652.2:c.3090del XP_011526954.1:p.Met1031TrpfsTer?
XM_017027704.1:c.3090del XP_016883193.1:p.Met1031TrpfsTer?
XM_017027705.1:c.3090del XP_016883194.1:p.Met1031TrpfsTer?
XM_017027706.1:c.3021del XP_016883195.1:p.Met1008TrpfsTer?
NM_015338.6:c.3174del MANE Select NP_056153.2:p.Met1059TrpfsTer?