Canonical Allele Identifier: CA2580612974

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 2570608
• ClinVar RCV Id: RCV003307368

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738833dup , CM000680.2:g.33738833dup	GRCh38
NC_000018.9:g.31318797dup , CM000680.1:g.31318797dup	GRCh37
NC_000018.8:g.29572795dup	NCBI36
NG_055244.1:g.165257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1432dup	ENSP00000513003.1:p.Ser478PhefsTer2
ENST00000269197.12:c.1429dup MANE Select	ENSP00000269197.4:p.Ser477PhefsTer2
ENST00000592288.6:c.*553dup	ENSP00000465053.1:n.*553dup
ENST00000592541.6:c.*1088dup	ENSP00000466655.2:n.*1088dup
ENST00000593195.6:c.1641dup	ENSP00000466073.1:n.1641dup
ENST00000642541.1:c.1261dup	ENSP00000493665.1:p.Ser421PhefsTer2
ENST00000681521.1:c.1309dup	ENSP00000506037.1:p.Ser437PhefsTer2
ENST00000269197.9:c.1429dup	ENSP00000269197.4:p.Ser477PhefsTer2
ENST00000592288.5:c.*553dup	ENSP00000465053.1:n.*553dup
NM_030632.1:c.1429dup	NP_085135.1:p.Ser477PhefsTer2
XM_005258356.1:c.1432dup	XP_005258413.1:p.Ser478PhefsTer2
XM_011526205.1:c.1405dup	XP_011524507.1:p.Ser469PhefsTer2
XM_011526206.1:c.1351dup	XP_011524508.1:p.Ser451PhefsTer2
XM_011526207.1:c.1351dup	XP_011524509.1:p.Ser451PhefsTer2
XM_011526208.1:c.1312dup	XP_011524510.1:p.Ser438PhefsTer2
XM_011526209.1:c.1261dup	XP_011524511.1:p.Ser421PhefsTer2
XM_011526210.1:c.1261dup	XP_011524512.1:p.Ser421PhefsTer2
XM_011526211.1:c.1261dup	XP_011524513.1:p.Ser421PhefsTer2
XM_011526212.1:c.1261dup	XP_011524514.1:p.Ser421PhefsTer2
XM_011526213.1:c.1261dup	XP_011524515.1:p.Ser421PhefsTer2
XM_011526214.1:c.1261dup	XP_011524516.1:p.Ser421PhefsTer2
NM_030632.2:c.1429dup	NP_085135.1:p.Ser477PhefsTer2
XM_011526205.2:c.1405dup	XP_011524507.1:p.Ser469PhefsTer2
XM_011526206.2:c.1351dup	XP_011524508.1:p.Ser451PhefsTer2
XM_011526213.2:c.1261dup	XP_011524515.1:p.Ser421PhefsTer2
XM_017026012.1:c.1351dup	XP_016881501.1:p.Ser451PhefsTer2
XM_017026013.1:c.1261dup	XP_016881502.1:p.Ser421PhefsTer2
XM_017026014.2:c.1261dup	XP_016881503.1:p.Ser421PhefsTer2
XM_024451269.1:c.1261dup	XP_024307037.1:p.Ser421PhefsTer2
NM_030632.3:c.1429dup MANE Select	NP_085135.1:p.Ser477PhefsTer2