Canonical Allele Identifier: CA2360293822
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436696_32436697delinsGA , CM000682.2:g.32436696_32436697delinsGA GRCh38
NC_000020.10:g.31024499_31024500delinsGA , CM000682.1:g.31024499_31024500delinsGA GRCh37
NC_000020.9:g.30488160_30488161delinsGA NCBI36
NG_027868.1:g.83353_83354delinsGA , LRG_630:g.83353_83354delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3984_3985delinsGA MANE Select ENSP00000364839.4:p.Glu1328=
ENST00000646985.1:c.3801_3802delinsGA ENSP00000495053.1:p.Glu1267=
ENST00000647223.1:n.6337_6338delinsGA
ENST00000651418.1:c.1870-1734_1870-1733delinsGA ENSP00000499150.1:n.1870-1734_1870-1733delinsGA
ENST00000306058.9:c.3969_3970delinsGA ENSP00000305119.5:p.Glu1323=
ENST00000375687.8:c.3984_3985delinsGA ENSP00000364839.4:p.Glu1328=
ENST00000613218.4:c.3984_3985delinsGA ENSP00000480487.1:p.Glu1328=
ENST00000620121.4:c.3984_3985delinsGA ENSP00000481978.1:p.Glu1328=
NM_015338.5:c.3984_3985delinsGA , LRG_630t1:c.3984_3985delinsGA NP_056153.2:p.Glu1328=
XM_006723727.2:c.3981_3982delinsGA XP_006723790.1:p.Glu1327=
XM_006723728.2:c.3954_3955delinsGA XP_006723791.1:p.Glu1318=
XM_006723730.2:c.3900_3901delinsGA XP_006723793.1:p.Glu1300=
XM_006723732.2:c.3801_3802delinsGA XP_006723795.1:p.Glu1267=
XM_006723733.1:c.3300_3301delinsGA XP_006723796.1:p.Glu1100=
XM_011528647.1:c.4248_4249delinsGA XP_011526949.1:p.Glu1416=
XM_011528648.1:c.4245_4246delinsGA XP_011526950.1:p.Glu1415=
XM_011528649.1:c.4164_4165delinsGA XP_011526951.1:p.Glu1388=
XM_011528650.1:c.4095_4096delinsGA XP_011526952.1:p.Glu1365=
XM_011528651.1:c.3963_3964delinsGA XP_011526953.1:p.Glu1321=
XM_011528652.1:c.3900_3901delinsGA XP_011526954.1:p.Glu1300=
NM_001363734.1:c.3801_3802delinsGA NP_001350663.1:p.Glu1267=
XM_006723727.3:c.3981_3982delinsGA XP_006723790.1:p.Glu1327=
XM_006723728.3:c.3954_3955delinsGA XP_006723791.1:p.Glu1318=
XM_006723730.4:c.3900_3901delinsGA XP_006723793.1:p.Glu1300=
XM_011528648.3:c.4245_4246delinsGA XP_011526950.1:p.Glu1415=
XM_011528652.2:c.3900_3901delinsGA XP_011526954.1:p.Glu1300=
XM_017027704.1:c.3900_3901delinsGA XP_016883193.1:p.Glu1300=
XM_017027705.1:c.3900_3901delinsGA XP_016883194.1:p.Glu1300=
XM_017027706.1:c.3831_3832delinsGA XP_016883195.1:p.Glu1277=
NM_015338.6:c.3984_3985delinsGA MANE Select NP_056153.2:p.Glu1328=