Canonical Allele Identifier: CA2580098071

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2100886
• ClinVar RCV Id: RCV003014631

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436262dup , CM000682.2:g.32436262dup	GRCh38
NC_000020.10:g.31024065dup , CM000682.1:g.31024065dup	GRCh37
NC_000020.9:g.30487726dup	NCBI36
NG_027868.1:g.82919dup , LRG_630:g.82919dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3550dup MANE Select	ENSP00000364839.4:p.Thr1184AsnfsTer9
ENST00000646985.1:c.3367dup	ENSP00000495053.1:p.Thr1123AsnfsTer9
ENST00000647223.1:n.5903dup
ENST00000651418.1:c.1869+1681dup	ENSP00000499150.1:n.1869+1681dup
ENST00000306058.9:c.3535dup	ENSP00000305119.5:p.Thr1179AsnfsTer9
ENST00000375687.8:c.3550dup	ENSP00000364839.4:p.Thr1184AsnfsTer9
ENST00000613218.4:c.3550dup	ENSP00000480487.1:p.Thr1184AsnfsTer9
ENST00000620121.4:c.3550dup	ENSP00000481978.1:p.Thr1184AsnfsTer9
NM_015338.5:c.3550dup , LRG_630t1:c.3550dup	NP_056153.2:p.Thr1184AsnfsTer9
XM_006723727.2:c.3547dup	XP_006723790.1:p.Thr1183AsnfsTer9
XM_006723728.2:c.3520dup	XP_006723791.1:p.Thr1174AsnfsTer9
XM_006723730.2:c.3466dup	XP_006723793.1:p.Thr1156AsnfsTer9
XM_006723732.2:c.3367dup	XP_006723795.1:p.Thr1123AsnfsTer9
XM_006723733.1:c.2866dup	XP_006723796.1:p.Thr956AsnfsTer9
XM_011528647.1:c.3814dup	XP_011526949.1:p.Thr1272AsnfsTer9
XM_011528648.1:c.3811dup	XP_011526950.1:p.Thr1271AsnfsTer9
XM_011528649.1:c.3730dup	XP_011526951.1:p.Thr1244AsnfsTer9
XM_011528650.1:c.3661dup	XP_011526952.1:p.Thr1221AsnfsTer9
XM_011528651.1:c.3529dup	XP_011526953.1:p.Thr1177AsnfsTer9
XM_011528652.1:c.3466dup	XP_011526954.1:p.Thr1156AsnfsTer9
NM_001363734.1:c.3367dup	NP_001350663.1:p.Thr1123AsnfsTer9
XM_006723727.3:c.3547dup	XP_006723790.1:p.Thr1183AsnfsTer9
XM_006723728.3:c.3520dup	XP_006723791.1:p.Thr1174AsnfsTer9
XM_006723730.4:c.3466dup	XP_006723793.1:p.Thr1156AsnfsTer9
XM_011528648.3:c.3811dup	XP_011526950.1:p.Thr1271AsnfsTer9
XM_011528652.2:c.3466dup	XP_011526954.1:p.Thr1156AsnfsTer9
XM_017027704.1:c.3466dup	XP_016883193.1:p.Thr1156AsnfsTer9
XM_017027705.1:c.3466dup	XP_016883194.1:p.Thr1156AsnfsTer9
XM_017027706.1:c.3397dup	XP_016883195.1:p.Thr1133AsnfsTer9
NM_015338.6:c.3550dup MANE Select	NP_056153.2:p.Thr1184AsnfsTer9