Canonical Allele Identifier: CA2519640378

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435927_32435928insTC , CM000682.2:g.32435927_32435928insTC	GRCh38
NC_000020.10:g.31023730_31023731insTC , CM000682.1:g.31023730_31023731insTC	GRCh37
NC_000020.9:g.30487391_30487392insTC	NCBI36
NG_027868.1:g.82584_82585insTC , LRG_630:g.82584_82585insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3215_3216insTC MANE Select	ENSP00000364839.4:p.Arg1073ProfsTer?
ENST00000646985.1:c.3032_3033insTC	ENSP00000495053.1:p.Arg1012ProfsTer?
ENST00000647223.1:n.5568_5569insTC
ENST00000651418.1:c.1869+1346_1869+1347insTC	ENSP00000499150.1:n.1869+1346_1869+1347insTC
ENST00000306058.9:c.3200_3201insTC	ENSP00000305119.5:p.Arg1068ProfsTer?
ENST00000375687.8:c.3215_3216insTC	ENSP00000364839.4:p.Arg1073ProfsTer?
ENST00000613218.4:c.3215_3216insTC	ENSP00000480487.1:p.Arg1073ProfsTer?
ENST00000620121.4:c.3215_3216insTC	ENSP00000481978.1:p.Arg1073ProfsTer?
NM_015338.5:c.3215_3216insTC , LRG_630t1:c.3215_3216insTC	NP_056153.2:p.Arg1073ProfsTer?
XM_006723727.2:c.3212_3213insTC	XP_006723790.1:p.Arg1072ProfsTer?
XM_006723728.2:c.3185_3186insTC	XP_006723791.1:p.Arg1063ProfsTer?
XM_006723730.2:c.3131_3132insTC	XP_006723793.1:p.Arg1045ProfsTer?
XM_006723732.2:c.3032_3033insTC	XP_006723795.1:p.Arg1012ProfsTer?
XM_006723733.1:c.2531_2532insTC	XP_006723796.1:p.Arg845ProfsTer?
XM_011528647.1:c.3479_3480insTC	XP_011526949.1:p.Arg1161ProfsTer?
XM_011528648.1:c.3476_3477insTC	XP_011526950.1:p.Arg1160ProfsTer?
XM_011528649.1:c.3395_3396insTC	XP_011526951.1:p.Arg1133ProfsTer?
XM_011528650.1:c.3326_3327insTC	XP_011526952.1:p.Arg1110ProfsTer?
XM_011528651.1:c.3194_3195insTC	XP_011526953.1:p.Arg1066ProfsTer?
XM_011528652.1:c.3131_3132insTC	XP_011526954.1:p.Arg1045ProfsTer?
NM_001363734.1:c.3032_3033insTC	NP_001350663.1:p.Arg1012ProfsTer?
XM_006723727.3:c.3212_3213insTC	XP_006723790.1:p.Arg1072ProfsTer?
XM_006723728.3:c.3185_3186insTC	XP_006723791.1:p.Arg1063ProfsTer?
XM_006723730.4:c.3131_3132insTC	XP_006723793.1:p.Arg1045ProfsTer?
XM_011528648.3:c.3476_3477insTC	XP_011526950.1:p.Arg1160ProfsTer?
XM_011528652.2:c.3131_3132insTC	XP_011526954.1:p.Arg1045ProfsTer?
XM_017027704.1:c.3131_3132insTC	XP_016883193.1:p.Arg1045ProfsTer?
XM_017027705.1:c.3131_3132insTC	XP_016883194.1:p.Arg1045ProfsTer?
XM_017027706.1:c.3062_3063insTC	XP_016883195.1:p.Arg1022ProfsTer?
NM_015338.6:c.3215_3216insTC MANE Select	NP_056153.2:p.Arg1073ProfsTer?