Canonical Allele Identifier: CA915951349

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 817942
• ClinVar RCV Id: RCV001009174
• dbSNP Id: rs1599563269

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738983del , CM000680.2:g.33738983del	GRCh38
NC_000018.9:g.31318947del , CM000680.1:g.31318947del	GRCh37
NC_000018.8:g.29572945del	NCBI36
NG_055244.1:g.165407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1582del	ENSP00000513003.1:p.Gln528ArgfsTer4
ENST00000269197.12:c.1579del MANE Select	ENSP00000269197.4:p.Gln527ArgfsTer4
ENST00000592288.6:c.*703del	ENSP00000465053.1:n.*703del
ENST00000592541.6:c.*1238del	ENSP00000466655.2:n.*1238del
ENST00000593195.6:c.1791del	ENSP00000466073.1:n.1791del
ENST00000642541.1:c.1411del	ENSP00000493665.1:p.Gln471ArgfsTer4
ENST00000681521.1:c.1459del	ENSP00000506037.1:p.Gln487ArgfsTer4
ENST00000269197.9:c.1579del	ENSP00000269197.4:p.Gln527ArgfsTer4
ENST00000592288.5:c.*703del	ENSP00000465053.1:n.*703del
NM_030632.1:c.1579del	NP_085135.1:p.Gln527ArgfsTer4
XM_005258356.1:c.1582del	XP_005258413.1:p.Gln528ArgfsTer4
XM_011526205.1:c.1555del	XP_011524507.1:p.Gln519ArgfsTer4
XM_011526206.1:c.1501del	XP_011524508.1:p.Gln501ArgfsTer4
XM_011526207.1:c.1501del	XP_011524509.1:p.Gln501ArgfsTer4
XM_011526208.1:c.1462del	XP_011524510.1:p.Gln488ArgfsTer4
XM_011526209.1:c.1411del	XP_011524511.1:p.Gln471ArgfsTer4
XM_011526210.1:c.1411del	XP_011524512.1:p.Gln471ArgfsTer4
XM_011526211.1:c.1411del	XP_011524513.1:p.Gln471ArgfsTer4
XM_011526212.1:c.1411del	XP_011524514.1:p.Gln471ArgfsTer4
XM_011526213.1:c.1411del	XP_011524515.1:p.Gln471ArgfsTer4
XM_011526214.1:c.1411del	XP_011524516.1:p.Gln471ArgfsTer4
NM_030632.2:c.1579del	NP_085135.1:p.Gln527ArgfsTer4
XM_011526205.2:c.1555del	XP_011524507.1:p.Gln519ArgfsTer4
XM_011526206.2:c.1501del	XP_011524508.1:p.Gln501ArgfsTer4
XM_011526213.2:c.1411del	XP_011524515.1:p.Gln471ArgfsTer4
XM_017026012.1:c.1501del	XP_016881501.1:p.Gln501ArgfsTer4
XM_017026013.1:c.1411del	XP_016881502.1:p.Gln471ArgfsTer4
XM_017026014.2:c.1411del	XP_016881503.1:p.Gln471ArgfsTer4
XM_024451269.1:c.1411del	XP_024307037.1:p.Gln471ArgfsTer4
NM_030632.3:c.1579del MANE Select	NP_085135.1:p.Gln527ArgfsTer4