Canonical Allele Identifier: CA645612975

Gene: ASXL1

Linked Data

• COSMIC: COSM6196710

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436703_32436704delinsT , CM000682.2:g.32436703_32436704delinsT	GRCh38
NC_000020.10:g.31024506_31024507delinsT , CM000682.1:g.31024506_31024507delinsT	GRCh37
NC_000020.9:g.30488167_30488168delinsT	NCBI36
NG_027868.1:g.83360_83361delinsT , LRG_630:g.83360_83361delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3991_3992delinsT MANE Select	ENSP00000364839.4:p.Pro1331Ter
ENST00000646985.1:c.3808_3809delinsT	ENSP00000495053.1:p.Pro1270Ter
ENST00000647223.1:n.6344_6345delinsT
ENST00000651418.1:c.1870-1727_1870-1726delinsT	ENSP00000499150.1:n.1870-1727_1870-1726delinsT
ENST00000306058.9:c.3976_3977delinsT	ENSP00000305119.5:p.Pro1326Ter
ENST00000375687.8:c.3991_3992delinsT	ENSP00000364839.4:p.Pro1331Ter
ENST00000613218.4:c.3991_3992delinsT	ENSP00000480487.1:p.Pro1331Ter
ENST00000620121.4:c.3991_3992delinsT	ENSP00000481978.1:p.Pro1331Ter
NM_015338.5:c.3991_3992delinsT , LRG_630t1:c.3991_3992delinsT	NP_056153.2:p.Pro1331Ter
XM_006723727.2:c.3988_3989delinsT	XP_006723790.1:p.Pro1330Ter
XM_006723728.2:c.3961_3962delinsT	XP_006723791.1:p.Pro1321Ter
XM_006723730.2:c.3907_3908delinsT	XP_006723793.1:p.Pro1303Ter
XM_006723732.2:c.3808_3809delinsT	XP_006723795.1:p.Pro1270Ter
XM_006723733.1:c.3307_3308delinsT	XP_006723796.1:p.Pro1103Ter
XM_011528647.1:c.4255_4256delinsT	XP_011526949.1:p.Pro1419Ter
XM_011528648.1:c.4252_4253delinsT	XP_011526950.1:p.Pro1418Ter
XM_011528649.1:c.4171_4172delinsT	XP_011526951.1:p.Pro1391Ter
XM_011528650.1:c.4102_4103delinsT	XP_011526952.1:p.Pro1368Ter
XM_011528651.1:c.3970_3971delinsT	XP_011526953.1:p.Pro1324Ter
XM_011528652.1:c.3907_3908delinsT	XP_011526954.1:p.Pro1303Ter
NM_001363734.1:c.3808_3809delinsT	NP_001350663.1:p.Pro1270Ter
XM_006723727.3:c.3988_3989delinsT	XP_006723790.1:p.Pro1330Ter
XM_006723728.3:c.3961_3962delinsT	XP_006723791.1:p.Pro1321Ter
XM_006723730.4:c.3907_3908delinsT	XP_006723793.1:p.Pro1303Ter
XM_011528648.3:c.4252_4253delinsT	XP_011526950.1:p.Pro1418Ter
XM_011528652.2:c.3907_3908delinsT	XP_011526954.1:p.Pro1303Ter
XM_017027704.1:c.3907_3908delinsT	XP_016883193.1:p.Pro1303Ter
XM_017027705.1:c.3907_3908delinsT	XP_016883194.1:p.Pro1303Ter
XM_017027706.1:c.3838_3839delinsT	XP_016883195.1:p.Pro1280Ter
NM_015338.6:c.3991_3992delinsT MANE Select	NP_056153.2:p.Pro1331Ter