Canonical Allele Identifier: CA2652401238

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436421-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436423del , CM000682.2:g.32436423del	GRCh38
NC_000020.10:g.31024226del , CM000682.1:g.31024226del	GRCh37
NC_000020.9:g.30487887del	NCBI36
NG_027868.1:g.83080del , LRG_630:g.83080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3711del MANE Select	ENSP00000364839.4:p.Phe1238LeufsTer?
ENST00000646985.1:c.3528del	ENSP00000495053.1:p.Phe1177LeufsTer?
ENST00000647223.1:n.6064del
ENST00000651418.1:c.1869+1842del	ENSP00000499150.1:n.1869+1842del
ENST00000306058.9:c.3696del	ENSP00000305119.5:p.Phe1233LeufsTer?
ENST00000375687.8:c.3711del	ENSP00000364839.4:p.Phe1238LeufsTer?
ENST00000613218.4:c.3711del	ENSP00000480487.1:p.Phe1238LeufsTer?
ENST00000620121.4:c.3711del	ENSP00000481978.1:p.Phe1238LeufsTer?
NM_015338.5:c.3711del , LRG_630t1:c.3711del	NP_056153.2:p.Phe1238LeufsTer?
XM_006723727.2:c.3708del	XP_006723790.1:p.Phe1237LeufsTer?
XM_006723728.2:c.3681del	XP_006723791.1:p.Phe1228LeufsTer?
XM_006723730.2:c.3627del	XP_006723793.1:p.Phe1210LeufsTer?
XM_006723732.2:c.3528del	XP_006723795.1:p.Phe1177LeufsTer?
XM_006723733.1:c.3027del	XP_006723796.1:p.Phe1010LeufsTer?
XM_011528647.1:c.3975del	XP_011526949.1:p.Phe1326LeufsTer?
XM_011528648.1:c.3972del	XP_011526950.1:p.Phe1325LeufsTer?
XM_011528649.1:c.3891del	XP_011526951.1:p.Phe1298LeufsTer?
XM_011528650.1:c.3822del	XP_011526952.1:p.Phe1275LeufsTer?
XM_011528651.1:c.3690del	XP_011526953.1:p.Phe1231LeufsTer?
XM_011528652.1:c.3627del	XP_011526954.1:p.Phe1210LeufsTer?
NM_001363734.1:c.3528del	NP_001350663.1:p.Phe1177LeufsTer?
XM_006723727.3:c.3708del	XP_006723790.1:p.Phe1237LeufsTer?
XM_006723728.3:c.3681del	XP_006723791.1:p.Phe1228LeufsTer?
XM_006723730.4:c.3627del	XP_006723793.1:p.Phe1210LeufsTer?
XM_011528648.3:c.3972del	XP_011526950.1:p.Phe1325LeufsTer?
XM_011528652.2:c.3627del	XP_011526954.1:p.Phe1210LeufsTer?
XM_017027704.1:c.3627del	XP_016883193.1:p.Phe1210LeufsTer?
XM_017027705.1:c.3627del	XP_016883194.1:p.Phe1210LeufsTer?
XM_017027706.1:c.3558del	XP_016883195.1:p.Phe1187LeufsTer?
NM_015338.6:c.3711del MANE Select	NP_056153.2:p.Phe1238LeufsTer?