Canonical Allele Identifier: CA510467680
Gene: ASXL1 HGNC NCBI

Linked Data

COSMIC: COSM41718
MyVariant Identifiers: chr20:g.31024303del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436500del , CM000682.2:g.32436500del GRCh38
NC_000020.10:g.31024303del , CM000682.1:g.31024303del GRCh37
NC_000020.9:g.30487964del NCBI36
NG_027868.1:g.83157del , LRG_630:g.83157del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3788del MANE Select ENSP00000364839.4:p.Pro1263GlnfsTer17
ENST00000646985.1:c.3605del ENSP00000495053.1:p.Pro1202GlnfsTer17
ENST00000647223.1:n.6141del
ENST00000651418.1:c.1869+1919del ENSP00000499150.1:n.1869+1919del
ENST00000306058.9:c.3773del ENSP00000305119.5:p.Pro1258GlnfsTer17
ENST00000375687.8:c.3788del ENSP00000364839.4:p.Pro1263GlnfsTer17
ENST00000613218.4:c.3788del ENSP00000480487.1:p.Pro1263GlnfsTer17
ENST00000620121.4:c.3788del ENSP00000481978.1:p.Pro1263GlnfsTer17
NM_015338.5:c.3788del , LRG_630t1:c.3788del NP_056153.2:p.Pro1263GlnfsTer17
XM_006723727.2:c.3785del XP_006723790.1:p.Pro1262GlnfsTer17
XM_006723728.2:c.3758del XP_006723791.1:p.Pro1253GlnfsTer17
XM_006723730.2:c.3704del XP_006723793.1:p.Pro1235GlnfsTer17
XM_006723732.2:c.3605del XP_006723795.1:p.Pro1202GlnfsTer17
XM_006723733.1:c.3104del XP_006723796.1:p.Pro1035GlnfsTer17
XM_011528647.1:c.4052del XP_011526949.1:p.Pro1351GlnfsTer17
XM_011528648.1:c.4049del XP_011526950.1:p.Pro1350GlnfsTer17
XM_011528649.1:c.3968del XP_011526951.1:p.Pro1323GlnfsTer17
XM_011528650.1:c.3899del XP_011526952.1:p.Pro1300GlnfsTer17
XM_011528651.1:c.3767del XP_011526953.1:p.Pro1256GlnfsTer17
XM_011528652.1:c.3704del XP_011526954.1:p.Pro1235GlnfsTer17
NM_001363734.1:c.3605del NP_001350663.1:p.Pro1202GlnfsTer17
XM_006723727.3:c.3785del XP_006723790.1:p.Pro1262GlnfsTer17
XM_006723728.3:c.3758del XP_006723791.1:p.Pro1253GlnfsTer17
XM_006723730.4:c.3704del XP_006723793.1:p.Pro1235GlnfsTer17
XM_011528648.3:c.4049del XP_011526950.1:p.Pro1350GlnfsTer17
XM_011528652.2:c.3704del XP_011526954.1:p.Pro1235GlnfsTer17
XM_017027704.1:c.3704del XP_016883193.1:p.Pro1235GlnfsTer17
XM_017027705.1:c.3704del XP_016883194.1:p.Pro1235GlnfsTer17
XM_017027706.1:c.3635del XP_016883195.1:p.Pro1212GlnfsTer17
NM_015338.6:c.3788del MANE Select NP_056153.2:p.Pro1263GlnfsTer17