Canonical Allele Identifier: CA629454103

Gene: ASXL3

Linked Data

• dbSNP Id: rs1568360551
• gnomAD v2: 18-31319304-GA-G
• gnomAD v4: 18-33739340-GA-G
• MyVariant Identifiers: chr18:g.31319305del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739341del , CM000680.2:g.33739341del	GRCh38
NC_000018.9:g.31319305del , CM000680.1:g.31319305del	GRCh37
NC_000018.8:g.29573303del	NCBI36
NG_055244.1:g.165765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1940del	ENSP00000513003.1:p.Glu647GlyfsTer?
ENST00000269197.12:c.1937del MANE Select	ENSP00000269197.4:p.Glu646GlyfsTer?
ENST00000592288.6:c.*1061del	ENSP00000465053.1:n.*1061del
ENST00000592541.6:c.*1596del	ENSP00000466655.2:n.*1596del
ENST00000593195.6:c.2149del	ENSP00000466073.1:n.2149del
ENST00000642541.1:c.1769del	ENSP00000493665.1:p.Glu590GlyfsTer?
ENST00000681521.1:c.1817del	ENSP00000506037.1:p.Glu606GlyfsTer?
ENST00000269197.9:c.1937del	ENSP00000269197.4:p.Glu646GlyfsTer?
ENST00000592288.5:c.*1061del	ENSP00000465053.1:n.*1061del
NM_030632.1:c.1937del	NP_085135.1:p.Glu646GlyfsTer?
XM_005258356.1:c.1940del	XP_005258413.1:p.Glu647GlyfsTer?
XM_011526205.1:c.1913del	XP_011524507.1:p.Glu638GlyfsTer?
XM_011526206.1:c.1859del	XP_011524508.1:p.Glu620GlyfsTer?
XM_011526207.1:c.1859del	XP_011524509.1:p.Glu620GlyfsTer?
XM_011526208.1:c.1820del	XP_011524510.1:p.Glu607GlyfsTer?
XM_011526209.1:c.1769del	XP_011524511.1:p.Glu590GlyfsTer?
XM_011526210.1:c.1769del	XP_011524512.1:p.Glu590GlyfsTer?
XM_011526211.1:c.1769del	XP_011524513.1:p.Glu590GlyfsTer?
XM_011526212.1:c.1769del	XP_011524514.1:p.Glu590GlyfsTer?
XM_011526213.1:c.1769del	XP_011524515.1:p.Glu590GlyfsTer?
XM_011526214.1:c.1769del	XP_011524516.1:p.Glu590GlyfsTer?
NM_030632.2:c.1937del	NP_085135.1:p.Glu646GlyfsTer?
XM_011526205.2:c.1913del	XP_011524507.1:p.Glu638GlyfsTer?
XM_011526206.2:c.1859del	XP_011524508.1:p.Glu620GlyfsTer?
XM_011526213.2:c.1769del	XP_011524515.1:p.Glu590GlyfsTer?
XM_017026012.1:c.1859del	XP_016881501.1:p.Glu620GlyfsTer?
XM_017026013.1:c.1769del	XP_016881502.1:p.Glu590GlyfsTer?
XM_017026014.2:c.1769del	XP_016881503.1:p.Glu590GlyfsTer?
XM_024451269.1:c.1769del	XP_024307037.1:p.Glu590GlyfsTer?
NM_030632.3:c.1937del MANE Select	NP_085135.1:p.Glu646GlyfsTer?