Canonical Allele Identifier: CA10605577

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 286814
• ClinVar RCV Id: RCV000389131
• dbSNP Id: rs886043487
• MyVariant Identifiers: chr18:g.31318852del (hg19) ; chr18:g.33738888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738888del , CM000680.2:g.33738888del	GRCh38
NC_000018.9:g.31318852del , CM000680.1:g.31318852del	GRCh37
NC_000018.8:g.29572850del	NCBI36
NG_055244.1:g.165312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1487del	ENSP00000513003.1:p.Pro496LeufsTer10
ENST00000269197.12:c.1484del MANE Select	ENSP00000269197.4:p.Pro495LeufsTer10
ENST00000592288.6:c.*608del	ENSP00000465053.1:n.*608del
ENST00000592541.6:c.*1143del	ENSP00000466655.2:n.*1143del
ENST00000593195.6:c.1696del	ENSP00000466073.1:n.1696del
ENST00000642541.1:c.1316del	ENSP00000493665.1:p.Pro439LeufsTer10
ENST00000681521.1:c.1364del	ENSP00000506037.1:p.Pro455LeufsTer10
ENST00000269197.9:c.1484del	ENSP00000269197.4:p.Pro495LeufsTer10
ENST00000592288.5:c.*608del	ENSP00000465053.1:n.*608del
NM_030632.1:c.1484del	NP_085135.1:p.Pro495LeufsTer10
XM_005258356.1:c.1487del	XP_005258413.1:p.Pro496LeufsTer10
XM_011526205.1:c.1460del	XP_011524507.1:p.Pro487LeufsTer10
XM_011526206.1:c.1406del	XP_011524508.1:p.Pro469LeufsTer10
XM_011526207.1:c.1406del	XP_011524509.1:p.Pro469LeufsTer10
XM_011526208.1:c.1367del	XP_011524510.1:p.Pro456LeufsTer10
XM_011526209.1:c.1316del	XP_011524511.1:p.Pro439LeufsTer10
XM_011526210.1:c.1316del	XP_011524512.1:p.Pro439LeufsTer10
XM_011526211.1:c.1316del	XP_011524513.1:p.Pro439LeufsTer10
XM_011526212.1:c.1316del	XP_011524514.1:p.Pro439LeufsTer10
XM_011526213.1:c.1316del	XP_011524515.1:p.Pro439LeufsTer10
XM_011526214.1:c.1316del	XP_011524516.1:p.Pro439LeufsTer10
NM_030632.2:c.1484del	NP_085135.1:p.Pro495LeufsTer10
XM_011526205.2:c.1460del	XP_011524507.1:p.Pro487LeufsTer10
XM_011526206.2:c.1406del	XP_011524508.1:p.Pro469LeufsTer10
XM_011526213.2:c.1316del	XP_011524515.1:p.Pro439LeufsTer10
XM_017026012.1:c.1406del	XP_016881501.1:p.Pro469LeufsTer10
XM_017026013.1:c.1316del	XP_016881502.1:p.Pro439LeufsTer10
XM_017026014.2:c.1316del	XP_016881503.1:p.Pro439LeufsTer10
XM_024451269.1:c.1316del	XP_024307037.1:p.Pro439LeufsTer10
NM_030632.3:c.1484del MANE Select	NP_085135.1:p.Pro495LeufsTer10