Canonical Allele Identifier: CA2695227378

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738810_33738813dup , CM000680.2:g.33738810_33738813dup	GRCh38
NC_000018.9:g.31318774_31318777dup , CM000680.1:g.31318774_31318777dup	GRCh37
NC_000018.8:g.29572772_29572775dup	NCBI36
NG_055244.1:g.165234_165237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1409_1412dup	ENSP00000513003.1:p.His471GlnfsTer3
ENST00000269197.12:c.1406_1409dup MANE Select	ENSP00000269197.4:p.His470GlnfsTer3
ENST00000592288.6:c.*530_*533dup	ENSP00000465053.1:n.*530_*533dup
ENST00000592541.6:c.*1065_*1068dup	ENSP00000466655.2:n.*1065_*1068dup
ENST00000593195.6:c.1618_1621dup	ENSP00000466073.1:n.1618_1621dup
ENST00000642541.1:c.1238_1241dup	ENSP00000493665.1:p.His414GlnfsTer3
ENST00000681521.1:c.1286_1289dup	ENSP00000506037.1:p.His430GlnfsTer3
ENST00000269197.9:c.1406_1409dup	ENSP00000269197.4:p.His470GlnfsTer3
ENST00000592288.5:c.*530_*533dup	ENSP00000465053.1:n.*530_*533dup
NM_030632.1:c.1406_1409dup	NP_085135.1:p.His470GlnfsTer3
XM_005258356.1:c.1409_1412dup	XP_005258413.1:p.His471GlnfsTer3
XM_011526205.1:c.1382_1385dup	XP_011524507.1:p.His462GlnfsTer3
XM_011526206.1:c.1328_1331dup	XP_011524508.1:p.His444GlnfsTer3
XM_011526207.1:c.1328_1331dup	XP_011524509.1:p.His444GlnfsTer3
XM_011526208.1:c.1289_1292dup	XP_011524510.1:p.His431GlnfsTer3
XM_011526209.1:c.1238_1241dup	XP_011524511.1:p.His414GlnfsTer3
XM_011526210.1:c.1238_1241dup	XP_011524512.1:p.His414GlnfsTer3
XM_011526211.1:c.1238_1241dup	XP_011524513.1:p.His414GlnfsTer3
XM_011526212.1:c.1238_1241dup	XP_011524514.1:p.His414GlnfsTer3
XM_011526213.1:c.1238_1241dup	XP_011524515.1:p.His414GlnfsTer3
XM_011526214.1:c.1238_1241dup	XP_011524516.1:p.His414GlnfsTer3
NM_030632.2:c.1406_1409dup	NP_085135.1:p.His470GlnfsTer3
XM_011526205.2:c.1382_1385dup	XP_011524507.1:p.His462GlnfsTer3
XM_011526206.2:c.1328_1331dup	XP_011524508.1:p.His444GlnfsTer3
XM_011526213.2:c.1238_1241dup	XP_011524515.1:p.His414GlnfsTer3
XM_017026012.1:c.1328_1331dup	XP_016881501.1:p.His444GlnfsTer3
XM_017026013.1:c.1238_1241dup	XP_016881502.1:p.His414GlnfsTer3
XM_017026014.2:c.1238_1241dup	XP_016881503.1:p.His414GlnfsTer3
XM_024451269.1:c.1238_1241dup	XP_024307037.1:p.His414GlnfsTer3
NM_030632.3:c.1406_1409dup MANE Select	NP_085135.1:p.His470GlnfsTer3