Canonical Allele Identifier: CA2580612976

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 1806649
• ClinVar RCV Id: RCV002474078

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33739301_33739302del , CM000680.2:g.33739301_33739302del	GRCh38
NC_000018.9:g.31319265_31319266del , CM000680.1:g.31319265_31319266del	GRCh37
NC_000018.8:g.29573263_29573264del	NCBI36
NG_055244.1:g.165725_165726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.1900_1901del	ENSP00000513003.1:p.Gln634ValfsTer13
ENST00000269197.12:c.1897_1898del MANE Select	ENSP00000269197.4:p.Gln633ValfsTer13
ENST00000592288.6:c.*1021_*1022del	ENSP00000465053.1:n.*1021_*1022del
ENST00000592541.6:c.*1556_*1557del	ENSP00000466655.2:n.*1556_*1557del
ENST00000593195.6:c.2109_2110del	ENSP00000466073.1:n.2109_2110del
ENST00000642541.1:c.1729_1730del	ENSP00000493665.1:p.Gln577ValfsTer13
ENST00000681521.1:c.1777_1778del	ENSP00000506037.1:p.Gln593ValfsTer13
ENST00000269197.9:c.1897_1898del	ENSP00000269197.4:p.Gln633ValfsTer13
ENST00000592288.5:c.*1021_*1022del	ENSP00000465053.1:n.*1021_*1022del
NM_030632.1:c.1897_1898del	NP_085135.1:p.Gln633ValfsTer13
XM_005258356.1:c.1900_1901del	XP_005258413.1:p.Gln634ValfsTer13
XM_011526205.1:c.1873_1874del	XP_011524507.1:p.Gln625ValfsTer13
XM_011526206.1:c.1819_1820del	XP_011524508.1:p.Gln607ValfsTer13
XM_011526207.1:c.1819_1820del	XP_011524509.1:p.Gln607ValfsTer13
XM_011526208.1:c.1780_1781del	XP_011524510.1:p.Gln594ValfsTer13
XM_011526209.1:c.1729_1730del	XP_011524511.1:p.Gln577ValfsTer13
XM_011526210.1:c.1729_1730del	XP_011524512.1:p.Gln577ValfsTer13
XM_011526211.1:c.1729_1730del	XP_011524513.1:p.Gln577ValfsTer13
XM_011526212.1:c.1729_1730del	XP_011524514.1:p.Gln577ValfsTer13
XM_011526213.1:c.1729_1730del	XP_011524515.1:p.Gln577ValfsTer13
XM_011526214.1:c.1729_1730del	XP_011524516.1:p.Gln577ValfsTer13
NM_030632.2:c.1897_1898del	NP_085135.1:p.Gln633ValfsTer13
XM_011526205.2:c.1873_1874del	XP_011524507.1:p.Gln625ValfsTer13
XM_011526206.2:c.1819_1820del	XP_011524508.1:p.Gln607ValfsTer13
XM_011526213.2:c.1729_1730del	XP_011524515.1:p.Gln577ValfsTer13
XM_017026012.1:c.1819_1820del	XP_016881501.1:p.Gln607ValfsTer13
XM_017026013.1:c.1729_1730del	XP_016881502.1:p.Gln577ValfsTer13
XM_017026014.2:c.1729_1730del	XP_016881503.1:p.Gln577ValfsTer13
XM_024451269.1:c.1729_1730del	XP_024307037.1:p.Gln577ValfsTer13
NM_030632.3:c.1897_1898del MANE Select	NP_085135.1:p.Gln633ValfsTer13