Canonical Allele Identifier: CA915952954

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 666295
• ClinVar RCV Id: RCV000824828
• dbSNP Id: rs1600592990

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436481del , CM000682.2:g.32436481del	GRCh38
NC_000020.10:g.31024284del , CM000682.1:g.31024284del	GRCh37
NC_000020.9:g.30487945del	NCBI36
NG_027868.1:g.83138del , LRG_630:g.83138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3769del MANE Select	ENSP00000364839.4:p.Ala1257LeufsTer23
ENST00000646985.1:c.3586del	ENSP00000495053.1:p.Ala1196LeufsTer23
ENST00000647223.1:n.6122del
ENST00000651418.1:c.1869+1900del	ENSP00000499150.1:n.1869+1900del
ENST00000306058.9:c.3754del	ENSP00000305119.5:p.Ala1252LeufsTer23
ENST00000375687.8:c.3769del	ENSP00000364839.4:p.Ala1257LeufsTer23
ENST00000613218.4:c.3769del	ENSP00000480487.1:p.Ala1257LeufsTer23
ENST00000620121.4:c.3769del	ENSP00000481978.1:p.Ala1257LeufsTer23
NM_015338.5:c.3769del , LRG_630t1:c.3769del	NP_056153.2:p.Ala1257LeufsTer23
XM_006723727.2:c.3766del	XP_006723790.1:p.Ala1256LeufsTer23
XM_006723728.2:c.3739del	XP_006723791.1:p.Ala1247LeufsTer23
XM_006723730.2:c.3685del	XP_006723793.1:p.Ala1229LeufsTer23
XM_006723732.2:c.3586del	XP_006723795.1:p.Ala1196LeufsTer23
XM_006723733.1:c.3085del	XP_006723796.1:p.Ala1029LeufsTer23
XM_011528647.1:c.4033del	XP_011526949.1:p.Ala1345LeufsTer23
XM_011528648.1:c.4030del	XP_011526950.1:p.Ala1344LeufsTer23
XM_011528649.1:c.3949del	XP_011526951.1:p.Ala1317LeufsTer23
XM_011528650.1:c.3880del	XP_011526952.1:p.Ala1294LeufsTer23
XM_011528651.1:c.3748del	XP_011526953.1:p.Ala1250LeufsTer23
XM_011528652.1:c.3685del	XP_011526954.1:p.Ala1229LeufsTer23
NM_001363734.1:c.3586del	NP_001350663.1:p.Ala1196LeufsTer23
XM_006723727.3:c.3766del	XP_006723790.1:p.Ala1256LeufsTer23
XM_006723728.3:c.3739del	XP_006723791.1:p.Ala1247LeufsTer23
XM_006723730.4:c.3685del	XP_006723793.1:p.Ala1229LeufsTer23
XM_011528648.3:c.4030del	XP_011526950.1:p.Ala1344LeufsTer23
XM_011528652.2:c.3685del	XP_011526954.1:p.Ala1229LeufsTer23
XM_017027704.1:c.3685del	XP_016883193.1:p.Ala1229LeufsTer23
XM_017027705.1:c.3685del	XP_016883194.1:p.Ala1229LeufsTer23
XM_017027706.1:c.3616del	XP_016883195.1:p.Ala1206LeufsTer23
NM_015338.6:c.3769del MANE Select	NP_056153.2:p.Ala1257LeufsTer23