Canonical Allele Identifier: CA645294121
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426466
ClinVar RCV Id: RCV000489639 RCV001265446
dbSNP Id: rs1085307640
MyVariant Identifiers: chr18:g.31318995_31318996del (hg19) chr18:g.33739031_33739032del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739031_33739032del , CM000680.2:g.33739031_33739032del GRCh38
NC_000018.9:g.31318995_31318996del , CM000680.1:g.31318995_31318996del GRCh37
NC_000018.8:g.29572993_29572994del NCBI36
NG_055244.1:g.165455_165456del

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.1630_1631del ENSP00000513003.1:p.Leu544TyrfsTer12
ENST00000269197.12:c.1627_1628del MANE Select ENSP00000269197.4:p.Leu543TyrfsTer12
ENST00000592288.6:c.*751_*752del ENSP00000465053.1:n.*751_*752del
ENST00000592541.6:c.*1286_*1287del ENSP00000466655.2:n.*1286_*1287del
ENST00000593195.6:c.1839_1840del ENSP00000466073.1:n.1839_1840del
ENST00000642541.1:c.1459_1460del ENSP00000493665.1:p.Leu487TyrfsTer12
ENST00000681521.1:c.1507_1508del ENSP00000506037.1:p.Leu503TyrfsTer12
ENST00000269197.9:c.1627_1628del ENSP00000269197.4:p.Leu543TyrfsTer12
ENST00000592288.5:c.*751_*752del ENSP00000465053.1:n.*751_*752del
NM_030632.1:c.1627_1628del NP_085135.1:p.Leu543TyrfsTer12
XM_005258356.1:c.1630_1631del XP_005258413.1:p.Leu544TyrfsTer12
XM_011526205.1:c.1603_1604del XP_011524507.1:p.Leu535TyrfsTer12
XM_011526206.1:c.1549_1550del XP_011524508.1:p.Leu517TyrfsTer12
XM_011526207.1:c.1549_1550del XP_011524509.1:p.Leu517TyrfsTer12
XM_011526208.1:c.1510_1511del XP_011524510.1:p.Leu504TyrfsTer12
XM_011526209.1:c.1459_1460del XP_011524511.1:p.Leu487TyrfsTer12
XM_011526210.1:c.1459_1460del XP_011524512.1:p.Leu487TyrfsTer12
XM_011526211.1:c.1459_1460del XP_011524513.1:p.Leu487TyrfsTer12
XM_011526212.1:c.1459_1460del XP_011524514.1:p.Leu487TyrfsTer12
XM_011526213.1:c.1459_1460del XP_011524515.1:p.Leu487TyrfsTer12
XM_011526214.1:c.1459_1460del XP_011524516.1:p.Leu487TyrfsTer12
NM_030632.2:c.1627_1628del NP_085135.1:p.Leu543TyrfsTer12
XM_011526205.2:c.1603_1604del XP_011524507.1:p.Leu535TyrfsTer12
XM_011526206.2:c.1549_1550del XP_011524508.1:p.Leu517TyrfsTer12
XM_011526213.2:c.1459_1460del XP_011524515.1:p.Leu487TyrfsTer12
XM_017026012.1:c.1549_1550del XP_016881501.1:p.Leu517TyrfsTer12
XM_017026013.1:c.1459_1460del XP_016881502.1:p.Leu487TyrfsTer12
XM_017026014.2:c.1459_1460del XP_016881503.1:p.Leu487TyrfsTer12
XM_024451269.1:c.1459_1460del XP_024307037.1:p.Leu487TyrfsTer12
NM_030632.3:c.1627_1628del MANE Select NP_085135.1:p.Leu543TyrfsTer12
Search 100 bp 5'
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