Canonical Allele Identifier: CA915951351

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 803483
• ClinVar RCV Id: RCV000990085
• dbSNP Id: rs1599564118

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739288_33739289del , CM000680.2:g.33739288_33739289del	GRCh38
NC_000018.9:g.31319252_31319253del , CM000680.1:g.31319252_31319253del	GRCh37
NC_000018.8:g.29573250_29573251del	NCBI36
NG_055244.1:g.165712_165713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1887_1888del	ENSP00000513003.1:p.Gly630ArgfsTer17
ENST00000269197.12:c.1884_1885del MANE Select	ENSP00000269197.4:p.Gly629ArgfsTer17
ENST00000592288.6:c.*1008_*1009del	ENSP00000465053.1:n.*1008_*1009del
ENST00000592541.6:c.*1543_*1544del	ENSP00000466655.2:n.*1543_*1544del
ENST00000593195.6:c.2096_2097del	ENSP00000466073.1:n.2096_2097del
ENST00000642541.1:c.1716_1717del	ENSP00000493665.1:p.Gly573ArgfsTer17
ENST00000681521.1:c.1764_1765del	ENSP00000506037.1:p.Gly589ArgfsTer17
ENST00000269197.9:c.1884_1885del	ENSP00000269197.4:p.Gly629ArgfsTer17
ENST00000592288.5:c.*1008_*1009del	ENSP00000465053.1:n.*1008_*1009del
NM_030632.1:c.1884_1885del	NP_085135.1:p.Gly629ArgfsTer17
XM_005258356.1:c.1887_1888del	XP_005258413.1:p.Gly630ArgfsTer17
XM_011526205.1:c.1860_1861del	XP_011524507.1:p.Gly621ArgfsTer17
XM_011526206.1:c.1806_1807del	XP_011524508.1:p.Gly603ArgfsTer17
XM_011526207.1:c.1806_1807del	XP_011524509.1:p.Gly603ArgfsTer17
XM_011526208.1:c.1767_1768del	XP_011524510.1:p.Gly590ArgfsTer17
XM_011526209.1:c.1716_1717del	XP_011524511.1:p.Gly573ArgfsTer17
XM_011526210.1:c.1716_1717del	XP_011524512.1:p.Gly573ArgfsTer17
XM_011526211.1:c.1716_1717del	XP_011524513.1:p.Gly573ArgfsTer17
XM_011526212.1:c.1716_1717del	XP_011524514.1:p.Gly573ArgfsTer17
XM_011526213.1:c.1716_1717del	XP_011524515.1:p.Gly573ArgfsTer17
XM_011526214.1:c.1716_1717del	XP_011524516.1:p.Gly573ArgfsTer17
NM_030632.2:c.1884_1885del	NP_085135.1:p.Gly629ArgfsTer17
XM_011526205.2:c.1860_1861del	XP_011524507.1:p.Gly621ArgfsTer17
XM_011526206.2:c.1806_1807del	XP_011524508.1:p.Gly603ArgfsTer17
XM_011526213.2:c.1716_1717del	XP_011524515.1:p.Gly573ArgfsTer17
XM_017026012.1:c.1806_1807del	XP_016881501.1:p.Gly603ArgfsTer17
XM_017026013.1:c.1716_1717del	XP_016881502.1:p.Gly573ArgfsTer17
XM_017026014.2:c.1716_1717del	XP_016881503.1:p.Gly573ArgfsTer17
XM_024451269.1:c.1716_1717del	XP_024307037.1:p.Gly573ArgfsTer17
NM_030632.3:c.1884_1885del MANE Select	NP_085135.1:p.Gly629ArgfsTer17