Canonical Allele Identifier: CA2759533400

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436561_32436578del , CM000682.2:g.32436561_32436578del	GRCh38
NC_000020.10:g.31024364_31024381del , CM000682.1:g.31024364_31024381del	GRCh37
NC_000020.9:g.30488025_30488042del	NCBI36
NG_027868.1:g.83218_83235del , LRG_630:g.83218_83235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3849_3866del MANE Select	ENSP00000364839.4:p.Pro1284_Arg1289del
ENST00000646985.1:c.3666_3683del	ENSP00000495053.1:p.Pro1223_Arg1228del
ENST00000647223.1:n.6202_6219del
ENST00000651418.1:c.1870-1869_1870-1852del	ENSP00000499150.1:n.1870-1869_1870-1852del
ENST00000306058.9:c.3834_3851del	ENSP00000305119.5:p.Pro1279_Arg1284del
ENST00000375687.8:c.3849_3866del	ENSP00000364839.4:p.Pro1284_Arg1289del
ENST00000613218.4:c.3849_3866del	ENSP00000480487.1:p.Pro1284_Arg1289del
ENST00000620121.4:c.3849_3866del	ENSP00000481978.1:p.Pro1284_Arg1289del
NM_015338.5:c.3849_3866del , LRG_630t1:c.3849_3866del	NP_056153.2:p.Pro1284_Arg1289del
XM_006723727.2:c.3846_3863del	XP_006723790.1:p.Pro1283_Arg1288del
XM_006723728.2:c.3819_3836del	XP_006723791.1:p.Pro1274_Arg1279del
XM_006723730.2:c.3765_3782del	XP_006723793.1:p.Pro1256_Arg1261del
XM_006723732.2:c.3666_3683del	XP_006723795.1:p.Pro1223_Arg1228del
XM_006723733.1:c.3165_3182del	XP_006723796.1:p.Pro1056_Arg1061del
XM_011528647.1:c.4113_4130del	XP_011526949.1:p.Pro1372_Arg1377del
XM_011528648.1:c.4110_4127del	XP_011526950.1:p.Pro1371_Arg1376del
XM_011528649.1:c.4029_4046del	XP_011526951.1:p.Pro1344_Arg1349del
XM_011528650.1:c.3960_3977del	XP_011526952.1:p.Pro1321_Arg1326del
XM_011528651.1:c.3828_3845del	XP_011526953.1:p.Pro1277_Arg1282del
XM_011528652.1:c.3765_3782del	XP_011526954.1:p.Pro1256_Arg1261del
NM_001363734.1:c.3666_3683del	NP_001350663.1:p.Pro1223_Arg1228del
XM_006723727.3:c.3846_3863del	XP_006723790.1:p.Pro1283_Arg1288del
XM_006723728.3:c.3819_3836del	XP_006723791.1:p.Pro1274_Arg1279del
XM_006723730.4:c.3765_3782del	XP_006723793.1:p.Pro1256_Arg1261del
XM_011528648.3:c.4110_4127del	XP_011526950.1:p.Pro1371_Arg1376del
XM_011528652.2:c.3765_3782del	XP_011526954.1:p.Pro1256_Arg1261del
XM_017027704.1:c.3765_3782del	XP_016883193.1:p.Pro1256_Arg1261del
XM_017027705.1:c.3765_3782del	XP_016883194.1:p.Pro1256_Arg1261del
XM_017027706.1:c.3696_3713del	XP_016883195.1:p.Pro1233_Arg1238del
NM_015338.6:c.3849_3866del MANE Select	NP_056153.2:p.Pro1284_Arg1289del