Canonical Allele Identifier: CA2697555379

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 2692440
• ClinVar RCV Id: RCV003581942

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739013_33739016del , CM000680.2:g.33739013_33739016del	GRCh38
NC_000018.9:g.31318977_31318980del , CM000680.1:g.31318977_31318980del	GRCh37
NC_000018.8:g.29572975_29572978del	NCBI36
NG_055244.1:g.165437_165440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1612_1615del	ENSP00000513003.1:p.Leu538LysfsTer13
ENST00000269197.12:c.1609_1612del MANE Select	ENSP00000269197.4:p.Leu537LysfsTer13
ENST00000592288.6:c.*733_*736del	ENSP00000465053.1:n.*733_*736del
ENST00000592541.6:c.*1268_*1271del	ENSP00000466655.2:n.*1268_*1271del
ENST00000593195.6:c.1821_1824del	ENSP00000466073.1:n.1821_1824del
ENST00000642541.1:c.1441_1444del	ENSP00000493665.1:p.Leu481LysfsTer13
ENST00000681521.1:c.1489_1492del	ENSP00000506037.1:p.Leu497LysfsTer13
ENST00000269197.9:c.1609_1612del	ENSP00000269197.4:p.Leu537LysfsTer13
ENST00000592288.5:c.*733_*736del	ENSP00000465053.1:n.*733_*736del
NM_030632.1:c.1609_1612del	NP_085135.1:p.Leu537LysfsTer13
XM_005258356.1:c.1612_1615del	XP_005258413.1:p.Leu538LysfsTer13
XM_011526205.1:c.1585_1588del	XP_011524507.1:p.Leu529LysfsTer13
XM_011526206.1:c.1531_1534del	XP_011524508.1:p.Leu511LysfsTer13
XM_011526207.1:c.1531_1534del	XP_011524509.1:p.Leu511LysfsTer13
XM_011526208.1:c.1492_1495del	XP_011524510.1:p.Leu498LysfsTer13
XM_011526209.1:c.1441_1444del	XP_011524511.1:p.Leu481LysfsTer13
XM_011526210.1:c.1441_1444del	XP_011524512.1:p.Leu481LysfsTer13
XM_011526211.1:c.1441_1444del	XP_011524513.1:p.Leu481LysfsTer13
XM_011526212.1:c.1441_1444del	XP_011524514.1:p.Leu481LysfsTer13
XM_011526213.1:c.1441_1444del	XP_011524515.1:p.Leu481LysfsTer13
XM_011526214.1:c.1441_1444del	XP_011524516.1:p.Leu481LysfsTer13
NM_030632.2:c.1609_1612del	NP_085135.1:p.Leu537LysfsTer13
XM_011526205.2:c.1585_1588del	XP_011524507.1:p.Leu529LysfsTer13
XM_011526206.2:c.1531_1534del	XP_011524508.1:p.Leu511LysfsTer13
XM_011526213.2:c.1441_1444del	XP_011524515.1:p.Leu481LysfsTer13
XM_017026012.1:c.1531_1534del	XP_016881501.1:p.Leu511LysfsTer13
XM_017026013.1:c.1441_1444del	XP_016881502.1:p.Leu481LysfsTer13
XM_017026014.2:c.1441_1444del	XP_016881503.1:p.Leu481LysfsTer13
XM_024451269.1:c.1441_1444del	XP_024307037.1:p.Leu481LysfsTer13
NM_030632.3:c.1609_1612del MANE Select	NP_085135.1:p.Leu537LysfsTer13