Canonical Allele Identifier: CA658799026

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 522176
• ClinVar RCV Id: RCV000624923
• dbSNP Id: rs1555742167
• MyVariant Identifiers: chr18:g.31318816dup (hg19) ; chr18:g.33738852dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738852dup , CM000680.2:g.33738852dup	GRCh38
NC_000018.9:g.31318816dup , CM000680.1:g.31318816dup	GRCh37
NC_000018.8:g.29572814dup	NCBI36
NG_055244.1:g.165276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1451dup	ENSP00000513003.1:p.Thr485AsnfsTer5
ENST00000269197.12:c.1448dup MANE Select	ENSP00000269197.4:p.Thr484AsnfsTer5
ENST00000592288.6:c.*572dup	ENSP00000465053.1:n.*572dup
ENST00000592541.6:c.*1107dup	ENSP00000466655.2:n.*1107dup
ENST00000593195.6:c.1660dup	ENSP00000466073.1:n.1660dup
ENST00000642541.1:c.1280dup	ENSP00000493665.1:p.Thr428AsnfsTer5
ENST00000681521.1:c.1328dup	ENSP00000506037.1:p.Thr444AsnfsTer5
ENST00000269197.9:c.1448dup	ENSP00000269197.4:p.Thr484AsnfsTer5
ENST00000592288.5:c.*572dup	ENSP00000465053.1:n.*572dup
NM_030632.1:c.1448dup	NP_085135.1:p.Thr484AsnfsTer5
XM_005258356.1:c.1451dup	XP_005258413.1:p.Thr485AsnfsTer5
XM_011526205.1:c.1424dup	XP_011524507.1:p.Thr476AsnfsTer5
XM_011526206.1:c.1370dup	XP_011524508.1:p.Thr458AsnfsTer5
XM_011526207.1:c.1370dup	XP_011524509.1:p.Thr458AsnfsTer5
XM_011526208.1:c.1331dup	XP_011524510.1:p.Thr445AsnfsTer5
XM_011526209.1:c.1280dup	XP_011524511.1:p.Thr428AsnfsTer5
XM_011526210.1:c.1280dup	XP_011524512.1:p.Thr428AsnfsTer5
XM_011526211.1:c.1280dup	XP_011524513.1:p.Thr428AsnfsTer5
XM_011526212.1:c.1280dup	XP_011524514.1:p.Thr428AsnfsTer5
XM_011526213.1:c.1280dup	XP_011524515.1:p.Thr428AsnfsTer5
XM_011526214.1:c.1280dup	XP_011524516.1:p.Thr428AsnfsTer5
NM_030632.2:c.1448dup	NP_085135.1:p.Thr484AsnfsTer5
XM_011526205.2:c.1424dup	XP_011524507.1:p.Thr476AsnfsTer5
XM_011526206.2:c.1370dup	XP_011524508.1:p.Thr458AsnfsTer5
XM_011526213.2:c.1280dup	XP_011524515.1:p.Thr428AsnfsTer5
XM_017026012.1:c.1370dup	XP_016881501.1:p.Thr458AsnfsTer5
XM_017026013.1:c.1280dup	XP_016881502.1:p.Thr428AsnfsTer5
XM_017026014.2:c.1280dup	XP_016881503.1:p.Thr428AsnfsTer5
XM_024451269.1:c.1280dup	XP_024307037.1:p.Thr428AsnfsTer5
NM_030632.3:c.1448dup MANE Select	NP_085135.1:p.Thr484AsnfsTer5