Canonical Allele Identifier: CA2652401206

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436148-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436149dup , CM000682.2:g.32436149dup	GRCh38
NC_000020.10:g.31023952dup , CM000682.1:g.31023952dup	GRCh37
NC_000020.9:g.30487613dup	NCBI36
NG_027868.1:g.82806dup , LRG_630:g.82806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3437dup MANE Select	ENSP00000364839.4:p.Leu1147AlafsTer17
ENST00000646985.1:c.3254dup	ENSP00000495053.1:p.Leu1086AlafsTer17
ENST00000647223.1:n.5790dup
ENST00000651418.1:c.1869+1568dup	ENSP00000499150.1:n.1869+1568dup
ENST00000306058.9:c.3422dup	ENSP00000305119.5:p.Leu1142AlafsTer17
ENST00000375687.8:c.3437dup	ENSP00000364839.4:p.Leu1147AlafsTer17
ENST00000613218.4:c.3437dup	ENSP00000480487.1:p.Leu1147AlafsTer17
ENST00000620121.4:c.3437dup	ENSP00000481978.1:p.Leu1147AlafsTer17
NM_015338.5:c.3437dup , LRG_630t1:c.3437dup	NP_056153.2:p.Leu1147AlafsTer17
XM_006723727.2:c.3434dup	XP_006723790.1:p.Leu1146AlafsTer17
XM_006723728.2:c.3407dup	XP_006723791.1:p.Leu1137AlafsTer17
XM_006723730.2:c.3353dup	XP_006723793.1:p.Leu1119AlafsTer17
XM_006723732.2:c.3254dup	XP_006723795.1:p.Leu1086AlafsTer17
XM_006723733.1:c.2753dup	XP_006723796.1:p.Leu919AlafsTer17
XM_011528647.1:c.3701dup	XP_011526949.1:p.Leu1235AlafsTer17
XM_011528648.1:c.3698dup	XP_011526950.1:p.Leu1234AlafsTer17
XM_011528649.1:c.3617dup	XP_011526951.1:p.Leu1207AlafsTer17
XM_011528650.1:c.3548dup	XP_011526952.1:p.Leu1184AlafsTer17
XM_011528651.1:c.3416dup	XP_011526953.1:p.Leu1140AlafsTer17
XM_011528652.1:c.3353dup	XP_011526954.1:p.Leu1119AlafsTer17
NM_001363734.1:c.3254dup	NP_001350663.1:p.Leu1086AlafsTer17
XM_006723727.3:c.3434dup	XP_006723790.1:p.Leu1146AlafsTer17
XM_006723728.3:c.3407dup	XP_006723791.1:p.Leu1137AlafsTer17
XM_006723730.4:c.3353dup	XP_006723793.1:p.Leu1119AlafsTer17
XM_011528648.3:c.3698dup	XP_011526950.1:p.Leu1234AlafsTer17
XM_011528652.2:c.3353dup	XP_011526954.1:p.Leu1119AlafsTer17
XM_017027704.1:c.3353dup	XP_016883193.1:p.Leu1119AlafsTer17
XM_017027705.1:c.3353dup	XP_016883194.1:p.Leu1119AlafsTer17
XM_017027706.1:c.3284dup	XP_016883195.1:p.Leu1096AlafsTer17
NM_015338.6:c.3437dup MANE Select	NP_056153.2:p.Leu1147AlafsTer17