Canonical Allele Identifier: CA2652401192

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436078-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436080del , CM000682.2:g.32436080del	GRCh38
NC_000020.10:g.31023883del , CM000682.1:g.31023883del	GRCh37
NC_000020.9:g.30487544del	NCBI36
NG_027868.1:g.82737del , LRG_630:g.82737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3368del MANE Select	ENSP00000364839.4:p.Pro1123HisfsTer?
ENST00000646985.1:c.3185del	ENSP00000495053.1:p.Pro1062HisfsTer?
ENST00000647223.1:n.5721del
ENST00000651418.1:c.1869+1499del	ENSP00000499150.1:n.1869+1499del
ENST00000306058.9:c.3353del	ENSP00000305119.5:p.Pro1118HisfsTer?
ENST00000375687.8:c.3368del	ENSP00000364839.4:p.Pro1123HisfsTer?
ENST00000613218.4:c.3368del	ENSP00000480487.1:p.Pro1123HisfsTer?
ENST00000620121.4:c.3368del	ENSP00000481978.1:p.Pro1123HisfsTer?
NM_015338.5:c.3368del , LRG_630t1:c.3368del	NP_056153.2:p.Pro1123HisfsTer?
XM_006723727.2:c.3365del	XP_006723790.1:p.Pro1122HisfsTer?
XM_006723728.2:c.3338del	XP_006723791.1:p.Pro1113HisfsTer?
XM_006723730.2:c.3284del	XP_006723793.1:p.Pro1095HisfsTer?
XM_006723732.2:c.3185del	XP_006723795.1:p.Pro1062HisfsTer?
XM_006723733.1:c.2684del	XP_006723796.1:p.Pro895HisfsTer?
XM_011528647.1:c.3632del	XP_011526949.1:p.Pro1211HisfsTer?
XM_011528648.1:c.3629del	XP_011526950.1:p.Pro1210HisfsTer?
XM_011528649.1:c.3548del	XP_011526951.1:p.Pro1183HisfsTer?
XM_011528650.1:c.3479del	XP_011526952.1:p.Pro1160HisfsTer?
XM_011528651.1:c.3347del	XP_011526953.1:p.Pro1116HisfsTer?
XM_011528652.1:c.3284del	XP_011526954.1:p.Pro1095HisfsTer?
NM_001363734.1:c.3185del	NP_001350663.1:p.Pro1062HisfsTer?
XM_006723727.3:c.3365del	XP_006723790.1:p.Pro1122HisfsTer?
XM_006723728.3:c.3338del	XP_006723791.1:p.Pro1113HisfsTer?
XM_006723730.4:c.3284del	XP_006723793.1:p.Pro1095HisfsTer?
XM_011528648.3:c.3629del	XP_011526950.1:p.Pro1210HisfsTer?
XM_011528652.2:c.3284del	XP_011526954.1:p.Pro1095HisfsTer?
XM_017027704.1:c.3284del	XP_016883193.1:p.Pro1095HisfsTer?
XM_017027705.1:c.3284del	XP_016883194.1:p.Pro1095HisfsTer?
XM_017027706.1:c.3215del	XP_016883195.1:p.Pro1072HisfsTer?
NM_015338.6:c.3368del MANE Select	NP_056153.2:p.Pro1123HisfsTer?