Canonical Allele Identifier: CA1016958880

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011412793
• gnomAD v3: 20-32428649-A-AC
• gnomAD v4: 20-32428649-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428649_32428650insC , CM000682.2:g.32428649_32428650insC	GRCh38
NC_000020.10:g.31016452_31016453insC , CM000682.1:g.31016452_31016453insC	GRCh37
NC_000020.9:g.30480113_30480114insC	NCBI36
NG_027868.1:g.75306_75307insC , LRG_630:g.75306_75307insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.471+227_471+228insC MANE Select	ENSP00000364839.4:n.471+227_471+228insC
ENST00000470145.3:n.490+227_490+228insC
ENST00000643168.1:c.387+227_387+228insC	ENSP00000495003.1:n.387+227_387+228insC
ENST00000644587.1:c.*310+227_*310+228insC	ENSP00000494813.1:n.*310+227_*310+228insC
ENST00000644615.1:n.175+227_175+228insC
ENST00000645514.1:n.295+227_295+228insC
ENST00000646985.1:c.441+227_441+228insC	ENSP00000495053.1:n.441+227_441+228insC
ENST00000651418.1:c.471+227_471+228insC	ENSP00000499150.1:n.471+227_471+228insC
ENST00000306058.9:c.456+227_456+228insC	ENSP00000305119.5:n.456+227_456+228insC
ENST00000375687.8:c.471+227_471+228insC	ENSP00000364839.4:n.471+227_471+228insC
ENST00000470145.2:n.490+227_490+228insC
ENST00000613218.4:c.471+227_471+228insC	ENSP00000480487.1:n.471+227_471+228insC
ENST00000620121.4:c.471+227_471+228insC	ENSP00000481978.1:n.471+227_471+228insC
NM_015338.5:c.471+227_471+228insC , LRG_630t1:c.471+227_471+228insC	NP_056153.2:n.471+227_471+228insC
XM_006723727.2:c.468+227_468+228insC	XP_006723790.1:n.468+227_468+228insC
XM_006723728.2:c.441+227_441+228insC	XP_006723791.1:n.441+227_441+228insC
XM_006723730.2:c.387+227_387+228insC	XP_006723793.1:n.387+227_387+228insC
XM_006723732.2:c.441+227_441+228insC	XP_006723795.1:n.441+227_441+228insC
XM_011528647.1:c.735+227_735+228insC	XP_011526949.1:n.735+227_735+228insC
XM_011528648.1:c.732+227_732+228insC	XP_011526950.1:n.732+227_732+228insC
XM_011528649.1:c.651+227_651+228insC	XP_011526951.1:n.651+227_651+228insC
XM_011528650.1:c.735+227_735+228insC	XP_011526952.1:n.735+227_735+228insC
XM_011528651.1:c.450+227_450+228insC	XP_011526953.1:n.450+227_450+228insC
XM_011528652.1:c.387+227_387+228insC	XP_011526954.1:n.387+227_387+228insC
NM_001363734.1:c.441+227_441+228insC	NP_001350663.1:n.441+227_441+228insC
XM_006723727.3:c.468+227_468+228insC	XP_006723790.1:n.468+227_468+228insC
XM_006723728.3:c.441+227_441+228insC	XP_006723791.1:n.441+227_441+228insC
XM_006723730.4:c.387+227_387+228insC	XP_006723793.1:n.387+227_387+228insC
XM_011528648.3:c.732+227_732+228insC	XP_011526950.1:n.732+227_732+228insC
XM_011528652.2:c.387+227_387+228insC	XP_011526954.1:n.387+227_387+228insC
XM_017027704.1:c.387+227_387+228insC	XP_016883193.1:n.387+227_387+228insC
XM_017027705.1:c.387+227_387+228insC	XP_016883194.1:n.387+227_387+228insC
XM_017027706.1:c.471+227_471+228insC	XP_016883195.1:n.471+227_471+228insC
NM_015338.6:c.471+227_471+228insC MANE Select	NP_056153.2:n.471+227_471+228insC