Canonical Allele Identifier: CA2554498263

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2499741
• ClinVar RCV Id: RCV003223833

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436813del , CM000682.2:g.32436813del	GRCh38
NC_000020.10:g.31024616del , CM000682.1:g.31024616del	GRCh37
NC_000020.9:g.30488277del	NCBI36
NG_027868.1:g.83470del , LRG_630:g.83470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4101del MANE Select	ENSP00000364839.4:p.Lys1368ArgfsTer?
ENST00000646985.1:c.3918del	ENSP00000495053.1:p.Lys1307ArgfsTer?
ENST00000647223.1:n.6454del
ENST00000651418.1:c.1870-1617del	ENSP00000499150.1:n.1870-1617del
ENST00000306058.9:c.4086del	ENSP00000305119.5:p.Lys1363ArgfsTer?
ENST00000375687.8:c.4101del	ENSP00000364839.4:p.Lys1368ArgfsTer?
ENST00000613218.4:c.4101del	ENSP00000480487.1:p.Lys1368ArgfsTer?
ENST00000620121.4:c.4101del	ENSP00000481978.1:p.Lys1368ArgfsTer?
NM_015338.5:c.4101del , LRG_630t1:c.4101del	NP_056153.2:p.Lys1368ArgfsTer?
XM_006723727.2:c.4098del	XP_006723790.1:p.Lys1367ArgfsTer?
XM_006723728.2:c.4071del	XP_006723791.1:p.Lys1358ArgfsTer?
XM_006723730.2:c.4017del	XP_006723793.1:p.Lys1340ArgfsTer?
XM_006723732.2:c.3918del	XP_006723795.1:p.Lys1307ArgfsTer?
XM_006723733.1:c.3417del	XP_006723796.1:p.Lys1140ArgfsTer?
XM_011528647.1:c.4365del	XP_011526949.1:p.Lys1456ArgfsTer?
XM_011528648.1:c.4362del	XP_011526950.1:p.Lys1455ArgfsTer?
XM_011528649.1:c.4281del	XP_011526951.1:p.Lys1428ArgfsTer?
XM_011528650.1:c.4212del	XP_011526952.1:p.Lys1405ArgfsTer?
XM_011528651.1:c.4080del	XP_011526953.1:p.Lys1361ArgfsTer?
XM_011528652.1:c.4017del	XP_011526954.1:p.Lys1340ArgfsTer?
NM_001363734.1:c.3918del	NP_001350663.1:p.Lys1307ArgfsTer?
XM_006723727.3:c.4098del	XP_006723790.1:p.Lys1367ArgfsTer?
XM_006723728.3:c.4071del	XP_006723791.1:p.Lys1358ArgfsTer?
XM_006723730.4:c.4017del	XP_006723793.1:p.Lys1340ArgfsTer?
XM_011528648.3:c.4362del	XP_011526950.1:p.Lys1455ArgfsTer?
XM_011528652.2:c.4017del	XP_011526954.1:p.Lys1340ArgfsTer?
XM_017027704.1:c.4017del	XP_016883193.1:p.Lys1340ArgfsTer?
XM_017027705.1:c.4017del	XP_016883194.1:p.Lys1340ArgfsTer?
XM_017027706.1:c.3948del	XP_016883195.1:p.Lys1317ArgfsTer?
NM_015338.6:c.4101del MANE Select	NP_056153.2:p.Lys1368ArgfsTer?