Canonical Allele Identifier: CA2580098171

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2014043
• ClinVar RCV Id: RCV002829835

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436714del , CM000682.2:g.32436714del	GRCh38
NC_000020.10:g.31024517del , CM000682.1:g.31024517del	GRCh37
NC_000020.9:g.30488178del	NCBI36
NG_027868.1:g.83371del , LRG_630:g.83371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4002del MANE Select	ENSP00000364839.4:p.Ser1335ValfsTer?
ENST00000646985.1:c.3819del	ENSP00000495053.1:p.Ser1274ValfsTer?
ENST00000647223.1:n.6355del
ENST00000651418.1:c.1870-1716del	ENSP00000499150.1:n.1870-1716del
ENST00000306058.9:c.3987del	ENSP00000305119.5:p.Ser1330ValfsTer?
ENST00000375687.8:c.4002del	ENSP00000364839.4:p.Ser1335ValfsTer?
ENST00000613218.4:c.4002del	ENSP00000480487.1:p.Ser1335ValfsTer?
ENST00000620121.4:c.4002del	ENSP00000481978.1:p.Ser1335ValfsTer?
NM_015338.5:c.4002del , LRG_630t1:c.4002del	NP_056153.2:p.Ser1335ValfsTer?
XM_006723727.2:c.3999del	XP_006723790.1:p.Ser1334ValfsTer?
XM_006723728.2:c.3972del	XP_006723791.1:p.Ser1325ValfsTer?
XM_006723730.2:c.3918del	XP_006723793.1:p.Ser1307ValfsTer?
XM_006723732.2:c.3819del	XP_006723795.1:p.Ser1274ValfsTer?
XM_006723733.1:c.3318del	XP_006723796.1:p.Ser1107ValfsTer?
XM_011528647.1:c.4266del	XP_011526949.1:p.Ser1423ValfsTer?
XM_011528648.1:c.4263del	XP_011526950.1:p.Ser1422ValfsTer?
XM_011528649.1:c.4182del	XP_011526951.1:p.Ser1395ValfsTer?
XM_011528650.1:c.4113del	XP_011526952.1:p.Ser1372ValfsTer?
XM_011528651.1:c.3981del	XP_011526953.1:p.Ser1328ValfsTer?
XM_011528652.1:c.3918del	XP_011526954.1:p.Ser1307ValfsTer?
NM_001363734.1:c.3819del	NP_001350663.1:p.Ser1274ValfsTer?
XM_006723727.3:c.3999del	XP_006723790.1:p.Ser1334ValfsTer?
XM_006723728.3:c.3972del	XP_006723791.1:p.Ser1325ValfsTer?
XM_006723730.4:c.3918del	XP_006723793.1:p.Ser1307ValfsTer?
XM_011528648.3:c.4263del	XP_011526950.1:p.Ser1422ValfsTer?
XM_011528652.2:c.3918del	XP_011526954.1:p.Ser1307ValfsTer?
XM_017027704.1:c.3918del	XP_016883193.1:p.Ser1307ValfsTer?
XM_017027705.1:c.3918del	XP_016883194.1:p.Ser1307ValfsTer?
XM_017027706.1:c.3849del	XP_016883195.1:p.Ser1284ValfsTer?
NM_015338.6:c.4002del MANE Select	NP_056153.2:p.Ser1335ValfsTer?