Canonical Allele Identifier: CA2652401349

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436723-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436725dup , CM000682.2:g.32436725dup	GRCh38
NC_000020.10:g.31024528dup , CM000682.1:g.31024528dup	GRCh37
NC_000020.9:g.30488189dup	NCBI36
NG_027868.1:g.83382dup , LRG_630:g.83382dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4013dup MANE Select	ENSP00000364839.4:p.Leu1338PhefsTer?
ENST00000646985.1:c.3830dup	ENSP00000495053.1:p.Leu1277PhefsTer?
ENST00000647223.1:n.6366dup
ENST00000651418.1:c.1870-1705dup	ENSP00000499150.1:n.1870-1705dup
ENST00000306058.9:c.3998dup	ENSP00000305119.5:p.Leu1333PhefsTer?
ENST00000375687.8:c.4013dup	ENSP00000364839.4:p.Leu1338PhefsTer?
ENST00000613218.4:c.4013dup	ENSP00000480487.1:p.Leu1338PhefsTer?
ENST00000620121.4:c.4013dup	ENSP00000481978.1:p.Leu1338PhefsTer?
NM_015338.5:c.4013dup , LRG_630t1:c.4013dup	NP_056153.2:p.Leu1338PhefsTer?
XM_006723727.2:c.4010dup	XP_006723790.1:p.Leu1337PhefsTer?
XM_006723728.2:c.3983dup	XP_006723791.1:p.Leu1328PhefsTer?
XM_006723730.2:c.3929dup	XP_006723793.1:p.Leu1310PhefsTer?
XM_006723732.2:c.3830dup	XP_006723795.1:p.Leu1277PhefsTer?
XM_006723733.1:c.3329dup	XP_006723796.1:p.Leu1110PhefsTer?
XM_011528647.1:c.4277dup	XP_011526949.1:p.Leu1426PhefsTer?
XM_011528648.1:c.4274dup	XP_011526950.1:p.Leu1425PhefsTer?
XM_011528649.1:c.4193dup	XP_011526951.1:p.Leu1398PhefsTer?
XM_011528650.1:c.4124dup	XP_011526952.1:p.Leu1375PhefsTer?
XM_011528651.1:c.3992dup	XP_011526953.1:p.Leu1331PhefsTer?
XM_011528652.1:c.3929dup	XP_011526954.1:p.Leu1310PhefsTer?
NM_001363734.1:c.3830dup	NP_001350663.1:p.Leu1277PhefsTer?
XM_006723727.3:c.4010dup	XP_006723790.1:p.Leu1337PhefsTer?
XM_006723728.3:c.3983dup	XP_006723791.1:p.Leu1328PhefsTer?
XM_006723730.4:c.3929dup	XP_006723793.1:p.Leu1310PhefsTer?
XM_011528648.3:c.4274dup	XP_011526950.1:p.Leu1425PhefsTer?
XM_011528652.2:c.3929dup	XP_011526954.1:p.Leu1310PhefsTer?
XM_017027704.1:c.3929dup	XP_016883193.1:p.Leu1310PhefsTer?
XM_017027705.1:c.3929dup	XP_016883194.1:p.Leu1310PhefsTer?
XM_017027706.1:c.3860dup	XP_016883195.1:p.Leu1287PhefsTer?
NM_015338.6:c.4013dup MANE Select	NP_056153.2:p.Leu1338PhefsTer?