Canonical Allele Identifier: CA645612972

Gene: ASXL1

Linked Data

• COSMIC: COSM41713

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436522_32436523dup , CM000682.2:g.32436522_32436523dup	GRCh38
NC_000020.10:g.31024325_31024326dup , CM000682.1:g.31024325_31024326dup	GRCh37
NC_000020.9:g.30487986_30487987dup	NCBI36
NG_027868.1:g.83179_83180dup , LRG_630:g.83179_83180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3810_3811dup MANE Select	ENSP00000364839.4:p.Thr1271LysfsTer10
ENST00000646985.1:c.3627_3628dup	ENSP00000495053.1:p.Thr1210LysfsTer10
ENST00000647223.1:n.6163_6164dup
ENST00000651418.1:c.1870-1908_1870-1907dup	ENSP00000499150.1:n.1870-1908_1870-1907dup
ENST00000306058.9:c.3795_3796dup	ENSP00000305119.5:p.Thr1266LysfsTer10
ENST00000375687.8:c.3810_3811dup	ENSP00000364839.4:p.Thr1271LysfsTer10
ENST00000613218.4:c.3810_3811dup	ENSP00000480487.1:p.Thr1271LysfsTer10
ENST00000620121.4:c.3810_3811dup	ENSP00000481978.1:p.Thr1271LysfsTer10
NM_015338.5:c.3810_3811dup , LRG_630t1:c.3810_3811dup	NP_056153.2:p.Thr1271LysfsTer10
XM_006723727.2:c.3807_3808dup	XP_006723790.1:p.Thr1270LysfsTer10
XM_006723728.2:c.3780_3781dup	XP_006723791.1:p.Thr1261LysfsTer10
XM_006723730.2:c.3726_3727dup	XP_006723793.1:p.Thr1243LysfsTer10
XM_006723732.2:c.3627_3628dup	XP_006723795.1:p.Thr1210LysfsTer10
XM_006723733.1:c.3126_3127dup	XP_006723796.1:p.Thr1043LysfsTer10
XM_011528647.1:c.4074_4075dup	XP_011526949.1:p.Thr1359LysfsTer10
XM_011528648.1:c.4071_4072dup	XP_011526950.1:p.Thr1358LysfsTer10
XM_011528649.1:c.3990_3991dup	XP_011526951.1:p.Thr1331LysfsTer10
XM_011528650.1:c.3921_3922dup	XP_011526952.1:p.Thr1308LysfsTer10
XM_011528651.1:c.3789_3790dup	XP_011526953.1:p.Thr1264LysfsTer10
XM_011528652.1:c.3726_3727dup	XP_011526954.1:p.Thr1243LysfsTer10
NM_001363734.1:c.3627_3628dup	NP_001350663.1:p.Thr1210LysfsTer10
XM_006723727.3:c.3807_3808dup	XP_006723790.1:p.Thr1270LysfsTer10
XM_006723728.3:c.3780_3781dup	XP_006723791.1:p.Thr1261LysfsTer10
XM_006723730.4:c.3726_3727dup	XP_006723793.1:p.Thr1243LysfsTer10
XM_011528648.3:c.4071_4072dup	XP_011526950.1:p.Thr1358LysfsTer10
XM_011528652.2:c.3726_3727dup	XP_011526954.1:p.Thr1243LysfsTer10
XM_017027704.1:c.3726_3727dup	XP_016883193.1:p.Thr1243LysfsTer10
XM_017027705.1:c.3726_3727dup	XP_016883194.1:p.Thr1243LysfsTer10
XM_017027706.1:c.3657_3658dup	XP_016883195.1:p.Thr1220LysfsTer10
NM_015338.6:c.3810_3811dup MANE Select	NP_056153.2:p.Thr1271LysfsTer10