Canonical Allele Identifier: CA2360293552

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436141_32436155delinsCCATGGCTCGCTACG , CM000682.2:g.32436141_32436155delinsCCATGGCTCGCTACG	GRCh38
NC_000020.10:g.31023944_31023958delinsCCATGGCTCGCTACG , CM000682.1:g.31023944_31023958delinsCCATGGCTCGCTACG	GRCh37
NC_000020.9:g.30487605_30487619delinsCCATGGCTCGCTACG	NCBI36
NG_027868.1:g.82798_82812delinsCCATGGCTCGCTACG , LRG_630:g.82798_82812delinsCCATGGCTCGCTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3429_3443delinsCCATGGCTCGCTACG MANE Select	ENSP00000364839.4:p.Ser1143=
ENST00000646985.1:c.3246_3260delinsCCATGGCTCGCTACG	ENSP00000495053.1:p.Ser1082=
ENST00000647223.1:n.5782_5796delinsCCATGGCTCGCTACG
ENST00000651418.1:c.1869+1560_1869+1574delinsCCATGGCTCGCTACG	ENSP00000499150.1:n.1869+1560_1869+1574delinsCCATGGCTCGCTACG
ENST00000306058.9:c.3414_3428delinsCCATGGCTCGCTACG	ENSP00000305119.5:p.Ser1138=
ENST00000375687.8:c.3429_3443delinsCCATGGCTCGCTACG	ENSP00000364839.4:p.Ser1143=
ENST00000613218.4:c.3429_3443delinsCCATGGCTCGCTACG	ENSP00000480487.1:p.Ser1143=
ENST00000620121.4:c.3429_3443delinsCCATGGCTCGCTACG	ENSP00000481978.1:p.Ser1143=
NM_015338.5:c.3429_3443delinsCCATGGCTCGCTACG , LRG_630t1:c.3429_3443delinsCCATGGCTCGCTACG	NP_056153.2:p.Ser1143=
XM_006723727.2:c.3426_3440delinsCCATGGCTCGCTACG	XP_006723790.1:p.Ser1142=
XM_006723728.2:c.3399_3413delinsCCATGGCTCGCTACG	XP_006723791.1:p.Ser1133=
XM_006723730.2:c.3345_3359delinsCCATGGCTCGCTACG	XP_006723793.1:p.Ser1115=
XM_006723732.2:c.3246_3260delinsCCATGGCTCGCTACG	XP_006723795.1:p.Ser1082=
XM_006723733.1:c.2745_2759delinsCCATGGCTCGCTACG	XP_006723796.1:p.Ser915=
XM_011528647.1:c.3693_3707delinsCCATGGCTCGCTACG	XP_011526949.1:p.Ser1231=
XM_011528648.1:c.3690_3704delinsCCATGGCTCGCTACG	XP_011526950.1:p.Ser1230=
XM_011528649.1:c.3609_3623delinsCCATGGCTCGCTACG	XP_011526951.1:p.Ser1203=
XM_011528650.1:c.3540_3554delinsCCATGGCTCGCTACG	XP_011526952.1:p.Ser1180=
XM_011528651.1:c.3408_3422delinsCCATGGCTCGCTACG	XP_011526953.1:p.Ser1136=
XM_011528652.1:c.3345_3359delinsCCATGGCTCGCTACG	XP_011526954.1:p.Ser1115=
NM_001363734.1:c.3246_3260delinsCCATGGCTCGCTACG	NP_001350663.1:p.Ser1082=
XM_006723727.3:c.3426_3440delinsCCATGGCTCGCTACG	XP_006723790.1:p.Ser1142=
XM_006723728.3:c.3399_3413delinsCCATGGCTCGCTACG	XP_006723791.1:p.Ser1133=
XM_006723730.4:c.3345_3359delinsCCATGGCTCGCTACG	XP_006723793.1:p.Ser1115=
XM_011528648.3:c.3690_3704delinsCCATGGCTCGCTACG	XP_011526950.1:p.Ser1230=
XM_011528652.2:c.3345_3359delinsCCATGGCTCGCTACG	XP_011526954.1:p.Ser1115=
XM_017027704.1:c.3345_3359delinsCCATGGCTCGCTACG	XP_016883193.1:p.Ser1115=
XM_017027705.1:c.3345_3359delinsCCATGGCTCGCTACG	XP_016883194.1:p.Ser1115=
XM_017027706.1:c.3276_3290delinsCCATGGCTCGCTACG	XP_016883195.1:p.Ser1092=
NM_015338.6:c.3429_3443delinsCCATGGCTCGCTACG MANE Select	NP_056153.2:p.Ser1143=