Canonical Allele Identifier: CA2580098170

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1803980
• ClinVar RCV Id: RCV002468718

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436654_32436669del , CM000682.2:g.32436654_32436669del	GRCh38
NC_000020.10:g.31024457_31024472del , CM000682.1:g.31024457_31024472del	GRCh37
NC_000020.9:g.30488118_30488133del	NCBI36
NG_027868.1:g.83311_83326del , LRG_630:g.83311_83326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3942_3957del MANE Select	ENSP00000364839.4:p.Gln1315ArgfsTer?
ENST00000646985.1:c.3759_3774del	ENSP00000495053.1:p.Gln1254ArgfsTer?
ENST00000647223.1:n.6295_6310del
ENST00000651418.1:c.1870-1776_1870-1761del	ENSP00000499150.1:n.1870-1776_1870-1761del
ENST00000306058.9:c.3927_3942del	ENSP00000305119.5:p.Gln1310ArgfsTer?
ENST00000375687.8:c.3942_3957del	ENSP00000364839.4:p.Gln1315ArgfsTer?
ENST00000613218.4:c.3942_3957del	ENSP00000480487.1:p.Gln1315ArgfsTer?
ENST00000620121.4:c.3942_3957del	ENSP00000481978.1:p.Gln1315ArgfsTer?
NM_015338.5:c.3942_3957del , LRG_630t1:c.3942_3957del	NP_056153.2:p.Gln1315ArgfsTer?
XM_006723727.2:c.3939_3954del	XP_006723790.1:p.Gln1314ArgfsTer?
XM_006723728.2:c.3912_3927del	XP_006723791.1:p.Gln1305ArgfsTer?
XM_006723730.2:c.3858_3873del	XP_006723793.1:p.Gln1287ArgfsTer?
XM_006723732.2:c.3759_3774del	XP_006723795.1:p.Gln1254ArgfsTer?
XM_006723733.1:c.3258_3273del	XP_006723796.1:p.Gln1087ArgfsTer?
XM_011528647.1:c.4206_4221del	XP_011526949.1:p.Gln1403ArgfsTer?
XM_011528648.1:c.4203_4218del	XP_011526950.1:p.Gln1402ArgfsTer?
XM_011528649.1:c.4122_4137del	XP_011526951.1:p.Gln1375ArgfsTer?
XM_011528650.1:c.4053_4068del	XP_011526952.1:p.Gln1352ArgfsTer?
XM_011528651.1:c.3921_3936del	XP_011526953.1:p.Gln1308ArgfsTer?
XM_011528652.1:c.3858_3873del	XP_011526954.1:p.Gln1287ArgfsTer?
NM_001363734.1:c.3759_3774del	NP_001350663.1:p.Gln1254ArgfsTer?
XM_006723727.3:c.3939_3954del	XP_006723790.1:p.Gln1314ArgfsTer?
XM_006723728.3:c.3912_3927del	XP_006723791.1:p.Gln1305ArgfsTer?
XM_006723730.4:c.3858_3873del	XP_006723793.1:p.Gln1287ArgfsTer?
XM_011528648.3:c.4203_4218del	XP_011526950.1:p.Gln1402ArgfsTer?
XM_011528652.2:c.3858_3873del	XP_011526954.1:p.Gln1287ArgfsTer?
XM_017027704.1:c.3858_3873del	XP_016883193.1:p.Gln1287ArgfsTer?
XM_017027705.1:c.3858_3873del	XP_016883194.1:p.Gln1287ArgfsTer?
XM_017027706.1:c.3789_3804del	XP_016883195.1:p.Gln1264ArgfsTer?
NM_015338.6:c.3942_3957del MANE Select	NP_056153.2:p.Gln1315ArgfsTer?