Canonical Allele Identifier: CA645612967

Gene: ASXL1

Linked Data

• COSMIC: COSM4385133 ; COSM4385134

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436329_32436338del , CM000682.2:g.32436329_32436338del	GRCh38
NC_000020.10:g.31024132_31024141del , CM000682.1:g.31024132_31024141del	GRCh37
NC_000020.9:g.30487793_30487802del	NCBI36
NG_027868.1:g.82986_82995del , LRG_630:g.82986_82995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3617_3626del MANE Select	ENSP00000364839.4:p.Ala1206ValfsTer8
ENST00000646985.1:c.3434_3443del	ENSP00000495053.1:p.Ala1145ValfsTer8
ENST00000647223.1:n.5970_5979del
ENST00000651418.1:c.1869+1748_1869+1757del	ENSP00000499150.1:n.1869+1748_1869+1757del
ENST00000306058.9:c.3602_3611del	ENSP00000305119.5:p.Ala1201ValfsTer8
ENST00000375687.8:c.3617_3626del	ENSP00000364839.4:p.Ala1206ValfsTer8
ENST00000613218.4:c.3617_3626del	ENSP00000480487.1:p.Ala1206ValfsTer8
ENST00000620121.4:c.3617_3626del	ENSP00000481978.1:p.Ala1206ValfsTer8
NM_015338.5:c.3617_3626del , LRG_630t1:c.3617_3626del	NP_056153.2:p.Ala1206ValfsTer8
XM_006723727.2:c.3614_3623del	XP_006723790.1:p.Ala1205ValfsTer8
XM_006723728.2:c.3587_3596del	XP_006723791.1:p.Ala1196ValfsTer8
XM_006723730.2:c.3533_3542del	XP_006723793.1:p.Ala1178ValfsTer8
XM_006723732.2:c.3434_3443del	XP_006723795.1:p.Ala1145ValfsTer8
XM_006723733.1:c.2933_2942del	XP_006723796.1:p.Ala978ValfsTer8
XM_011528647.1:c.3881_3890del	XP_011526949.1:p.Ala1294ValfsTer8
XM_011528648.1:c.3878_3887del	XP_011526950.1:p.Ala1293ValfsTer8
XM_011528649.1:c.3797_3806del	XP_011526951.1:p.Ala1266ValfsTer8
XM_011528650.1:c.3728_3737del	XP_011526952.1:p.Ala1243ValfsTer8
XM_011528651.1:c.3596_3605del	XP_011526953.1:p.Ala1199ValfsTer8
XM_011528652.1:c.3533_3542del	XP_011526954.1:p.Ala1178ValfsTer8
NM_001363734.1:c.3434_3443del	NP_001350663.1:p.Ala1145ValfsTer8
XM_006723727.3:c.3614_3623del	XP_006723790.1:p.Ala1205ValfsTer8
XM_006723728.3:c.3587_3596del	XP_006723791.1:p.Ala1196ValfsTer8
XM_006723730.4:c.3533_3542del	XP_006723793.1:p.Ala1178ValfsTer8
XM_011528648.3:c.3878_3887del	XP_011526950.1:p.Ala1293ValfsTer8
XM_011528652.2:c.3533_3542del	XP_011526954.1:p.Ala1178ValfsTer8
XM_017027704.1:c.3533_3542del	XP_016883193.1:p.Ala1178ValfsTer8
XM_017027705.1:c.3533_3542del	XP_016883194.1:p.Ala1178ValfsTer8
XM_017027706.1:c.3464_3473del	XP_016883195.1:p.Ala1155ValfsTer8
NM_015338.6:c.3617_3626del MANE Select	NP_056153.2:p.Ala1206ValfsTer8