Canonical Allele Identifier: CA2577366264

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435913_32435914del , CM000682.2:g.32435913_32435914del	GRCh38
NC_000020.10:g.31023716_31023717del , CM000682.1:g.31023716_31023717del	GRCh37
NC_000020.9:g.30487377_30487378del	NCBI36
NG_027868.1:g.82570_82571del , LRG_630:g.82570_82571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3201_3202del MANE Select	ENSP00000364839.4:p.Arg1068SerfsTer18
ENST00000646985.1:c.3018_3019del	ENSP00000495053.1:p.Arg1007SerfsTer18
ENST00000647223.1:n.5554_5555del
ENST00000651418.1:c.1869+1332_1869+1333del	ENSP00000499150.1:n.1869+1332_1869+1333del
ENST00000306058.9:c.3186_3187del	ENSP00000305119.5:p.Arg1063SerfsTer18
ENST00000375687.8:c.3201_3202del	ENSP00000364839.4:p.Arg1068SerfsTer18
ENST00000613218.4:c.3201_3202del	ENSP00000480487.1:p.Arg1068SerfsTer18
ENST00000620121.4:c.3201_3202del	ENSP00000481978.1:p.Arg1068SerfsTer18
NM_015338.5:c.3201_3202del , LRG_630t1:c.3201_3202del	NP_056153.2:p.Arg1068SerfsTer18
XM_006723727.2:c.3198_3199del	XP_006723790.1:p.Arg1067SerfsTer18
XM_006723728.2:c.3171_3172del	XP_006723791.1:p.Arg1058SerfsTer18
XM_006723730.2:c.3117_3118del	XP_006723793.1:p.Arg1040SerfsTer18
XM_006723732.2:c.3018_3019del	XP_006723795.1:p.Arg1007SerfsTer18
XM_006723733.1:c.2517_2518del	XP_006723796.1:p.Arg840SerfsTer18
XM_011528647.1:c.3465_3466del	XP_011526949.1:p.Arg1156SerfsTer18
XM_011528648.1:c.3462_3463del	XP_011526950.1:p.Arg1155SerfsTer18
XM_011528649.1:c.3381_3382del	XP_011526951.1:p.Arg1128SerfsTer18
XM_011528650.1:c.3312_3313del	XP_011526952.1:p.Arg1105SerfsTer18
XM_011528651.1:c.3180_3181del	XP_011526953.1:p.Arg1061SerfsTer18
XM_011528652.1:c.3117_3118del	XP_011526954.1:p.Arg1040SerfsTer18
NM_001363734.1:c.3018_3019del	NP_001350663.1:p.Arg1007SerfsTer18
XM_006723727.3:c.3198_3199del	XP_006723790.1:p.Arg1067SerfsTer18
XM_006723728.3:c.3171_3172del	XP_006723791.1:p.Arg1058SerfsTer18
XM_006723730.4:c.3117_3118del	XP_006723793.1:p.Arg1040SerfsTer18
XM_011528648.3:c.3462_3463del	XP_011526950.1:p.Arg1155SerfsTer18
XM_011528652.2:c.3117_3118del	XP_011526954.1:p.Arg1040SerfsTer18
XM_017027704.1:c.3117_3118del	XP_016883193.1:p.Arg1040SerfsTer18
XM_017027705.1:c.3117_3118del	XP_016883194.1:p.Arg1040SerfsTer18
XM_017027706.1:c.3048_3049del	XP_016883195.1:p.Arg1017SerfsTer18
NM_015338.6:c.3201_3202del MANE Select	NP_056153.2:p.Arg1068SerfsTer18