Canonical Allele Identifier: CA645612965

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011857772
• gnomAD v4: 20-32436223-AG-A
• COSMIC: COSM4385127 ; COSM4385128

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436226del , CM000682.2:g.32436226del	GRCh38
NC_000020.10:g.31024029del , CM000682.1:g.31024029del	GRCh37
NC_000020.9:g.30487690del	NCBI36
NG_027868.1:g.82883del , LRG_630:g.82883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3514del MANE Select	ENSP00000364839.4:p.Ala1172LeufsTer2
ENST00000646985.1:c.3331del	ENSP00000495053.1:p.Ala1111LeufsTer2
ENST00000647223.1:n.5867del
ENST00000651418.1:c.1869+1645del	ENSP00000499150.1:n.1869+1645del
ENST00000306058.9:c.3499del	ENSP00000305119.5:p.Ala1167LeufsTer2
ENST00000375687.8:c.3514del	ENSP00000364839.4:p.Ala1172LeufsTer2
ENST00000613218.4:c.3514del	ENSP00000480487.1:p.Ala1172LeufsTer2
ENST00000620121.4:c.3514del	ENSP00000481978.1:p.Ala1172LeufsTer2
NM_015338.5:c.3514del , LRG_630t1:c.3514del	NP_056153.2:p.Ala1172LeufsTer2
XM_006723727.2:c.3511del	XP_006723790.1:p.Ala1171LeufsTer2
XM_006723728.2:c.3484del	XP_006723791.1:p.Ala1162LeufsTer2
XM_006723730.2:c.3430del	XP_006723793.1:p.Ala1144LeufsTer2
XM_006723732.2:c.3331del	XP_006723795.1:p.Ala1111LeufsTer2
XM_006723733.1:c.2830del	XP_006723796.1:p.Ala944LeufsTer2
XM_011528647.1:c.3778del	XP_011526949.1:p.Ala1260LeufsTer2
XM_011528648.1:c.3775del	XP_011526950.1:p.Ala1259LeufsTer2
XM_011528649.1:c.3694del	XP_011526951.1:p.Ala1232LeufsTer2
XM_011528650.1:c.3625del	XP_011526952.1:p.Ala1209LeufsTer2
XM_011528651.1:c.3493del	XP_011526953.1:p.Ala1165LeufsTer2
XM_011528652.1:c.3430del	XP_011526954.1:p.Ala1144LeufsTer2
NM_001363734.1:c.3331del	NP_001350663.1:p.Ala1111LeufsTer2
XM_006723727.3:c.3511del	XP_006723790.1:p.Ala1171LeufsTer2
XM_006723728.3:c.3484del	XP_006723791.1:p.Ala1162LeufsTer2
XM_006723730.4:c.3430del	XP_006723793.1:p.Ala1144LeufsTer2
XM_011528648.3:c.3775del	XP_011526950.1:p.Ala1259LeufsTer2
XM_011528652.2:c.3430del	XP_011526954.1:p.Ala1144LeufsTer2
XM_017027704.1:c.3430del	XP_016883193.1:p.Ala1144LeufsTer2
XM_017027705.1:c.3430del	XP_016883194.1:p.Ala1144LeufsTer2
XM_017027706.1:c.3361del	XP_016883195.1:p.Ala1121LeufsTer2
NM_015338.6:c.3514del MANE Select	NP_056153.2:p.Ala1172LeufsTer2