Canonical Allele Identifier: CA2842273174

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436408del , CM000682.2:g.32436408del	GRCh38
NC_000020.10:g.31024211del , CM000682.1:g.31024211del	GRCh37
NC_000020.9:g.30487872del	NCBI36
NG_027868.1:g.83065del , LRG_630:g.83065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3696del MANE Select	ENSP00000364839.4:p.Glu1233SerfsTer?
ENST00000646985.1:c.3513del	ENSP00000495053.1:p.Glu1172SerfsTer?
ENST00000647223.1:n.6049del
ENST00000651418.1:c.1869+1827del	ENSP00000499150.1:n.1869+1827del
ENST00000306058.9:c.3681del	ENSP00000305119.5:p.Glu1228SerfsTer?
ENST00000375687.8:c.3696del	ENSP00000364839.4:p.Glu1233SerfsTer?
ENST00000613218.4:c.3696del	ENSP00000480487.1:p.Glu1233SerfsTer?
ENST00000620121.4:c.3696del	ENSP00000481978.1:p.Glu1233SerfsTer?
NM_015338.5:c.3696del , LRG_630t1:c.3696del	NP_056153.2:p.Glu1233SerfsTer?
XM_006723727.2:c.3693del	XP_006723790.1:p.Glu1232SerfsTer?
XM_006723728.2:c.3666del	XP_006723791.1:p.Glu1223SerfsTer?
XM_006723730.2:c.3612del	XP_006723793.1:p.Glu1205SerfsTer?
XM_006723732.2:c.3513del	XP_006723795.1:p.Glu1172SerfsTer?
XM_006723733.1:c.3012del	XP_006723796.1:p.Glu1005SerfsTer?
XM_011528647.1:c.3960del	XP_011526949.1:p.Glu1321SerfsTer?
XM_011528648.1:c.3957del	XP_011526950.1:p.Glu1320SerfsTer?
XM_011528649.1:c.3876del	XP_011526951.1:p.Glu1293SerfsTer?
XM_011528650.1:c.3807del	XP_011526952.1:p.Glu1270SerfsTer?
XM_011528651.1:c.3675del	XP_011526953.1:p.Glu1226SerfsTer?
XM_011528652.1:c.3612del	XP_011526954.1:p.Glu1205SerfsTer?
NM_001363734.1:c.3513del	NP_001350663.1:p.Glu1172SerfsTer?
XM_006723727.3:c.3693del	XP_006723790.1:p.Glu1232SerfsTer?
XM_006723728.3:c.3666del	XP_006723791.1:p.Glu1223SerfsTer?
XM_006723730.4:c.3612del	XP_006723793.1:p.Glu1205SerfsTer?
XM_011528648.3:c.3957del	XP_011526950.1:p.Glu1320SerfsTer?
XM_011528652.2:c.3612del	XP_011526954.1:p.Glu1205SerfsTer?
XM_017027704.1:c.3612del	XP_016883193.1:p.Glu1205SerfsTer?
XM_017027705.1:c.3612del	XP_016883194.1:p.Glu1205SerfsTer?
XM_017027706.1:c.3543del	XP_016883195.1:p.Glu1182SerfsTer?
NM_015338.6:c.3696del MANE Select	NP_056153.2:p.Glu1233SerfsTer?