Canonical Allele Identifier: CA3053814670

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739371dup , CM000680.2:g.33739371dup	GRCh38
NC_000018.9:g.31319335dup , CM000680.1:g.31319335dup	GRCh37
NC_000018.8:g.29573333dup	NCBI36
NG_055244.1:g.165795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1970dup	ENSP00000513003.1:p.Glu658Ter
ENST00000269197.12:c.1967dup MANE Select	ENSP00000269197.4:p.Glu657Ter
ENST00000592288.6:c.*1091dup	ENSP00000465053.1:n.*1091dup
ENST00000592541.6:c.*1626dup	ENSP00000466655.2:n.*1626dup
ENST00000593195.6:c.2179dup	ENSP00000466073.1:n.2179dup
ENST00000642541.1:c.1799dup	ENSP00000493665.1:p.Glu601Ter
ENST00000681521.1:c.1847dup	ENSP00000506037.1:p.Glu617Ter
ENST00000269197.9:c.1967dup	ENSP00000269197.4:p.Glu657Ter
ENST00000592288.5:c.*1091dup	ENSP00000465053.1:n.*1091dup
NM_030632.1:c.1967dup	NP_085135.1:p.Glu657Ter
XM_005258356.1:c.1970dup	XP_005258413.1:p.Glu658Ter
XM_011526205.1:c.1943dup	XP_011524507.1:p.Glu649Ter
XM_011526206.1:c.1889dup	XP_011524508.1:p.Glu631Ter
XM_011526207.1:c.1889dup	XP_011524509.1:p.Glu631Ter
XM_011526208.1:c.1850dup	XP_011524510.1:p.Glu618Ter
XM_011526209.1:c.1799dup	XP_011524511.1:p.Glu601Ter
XM_011526210.1:c.1799dup	XP_011524512.1:p.Glu601Ter
XM_011526211.1:c.1799dup	XP_011524513.1:p.Glu601Ter
XM_011526212.1:c.1799dup	XP_011524514.1:p.Glu601Ter
XM_011526213.1:c.1799dup	XP_011524515.1:p.Glu601Ter
XM_011526214.1:c.1799dup	XP_011524516.1:p.Glu601Ter
NM_030632.2:c.1967dup	NP_085135.1:p.Glu657Ter
XM_011526205.2:c.1943dup	XP_011524507.1:p.Glu649Ter
XM_011526206.2:c.1889dup	XP_011524508.1:p.Glu631Ter
XM_011526213.2:c.1799dup	XP_011524515.1:p.Glu601Ter
XM_017026012.1:c.1889dup	XP_016881501.1:p.Glu631Ter
XM_017026013.1:c.1799dup	XP_016881502.1:p.Glu601Ter
XM_017026014.2:c.1799dup	XP_016881503.1:p.Glu601Ter
XM_024451269.1:c.1799dup	XP_024307037.1:p.Glu601Ter
NM_030632.3:c.1967dup MANE Select	NP_085135.1:p.Glu657Ter