Canonical Allele Identifier: CA2294855703

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738845_33738846delinsGA , CM000680.2:g.33738845_33738846delinsGA	GRCh38
NC_000018.9:g.31318809_31318810delinsGA , CM000680.1:g.31318809_31318810delinsGA	GRCh37
NC_000018.8:g.29572807_29572808delinsGA	NCBI36
NG_055244.1:g.165269_165270delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1444_1445delinsGA	ENSP00000513003.1:p.Glu482=
ENST00000269197.12:c.1441_1442delinsGA MANE Select	ENSP00000269197.4:p.Glu481=
ENST00000592288.6:c.*565_*566delinsGA	ENSP00000465053.1:n.*565_*566delinsGA
ENST00000592541.6:c.*1100_*1101delinsGA	ENSP00000466655.2:n.*1100_*1101delinsGA
ENST00000593195.6:c.1653_1654delinsGA	ENSP00000466073.1:n.1653_1654delinsGA
ENST00000642541.1:c.1273_1274delinsGA	ENSP00000493665.1:p.Glu425=
ENST00000681521.1:c.1321_1322delinsGA	ENSP00000506037.1:p.Glu441=
ENST00000269197.9:c.1441_1442delinsGA	ENSP00000269197.4:p.Glu481=
ENST00000592288.5:c.*565_*566delinsGA	ENSP00000465053.1:n.*565_*566delinsGA
NM_030632.1:c.1441_1442delinsGA	NP_085135.1:p.Glu481=
XM_005258356.1:c.1444_1445delinsGA	XP_005258413.1:p.Glu482=
XM_011526205.1:c.1417_1418delinsGA	XP_011524507.1:p.Glu473=
XM_011526206.1:c.1363_1364delinsGA	XP_011524508.1:p.Glu455=
XM_011526207.1:c.1363_1364delinsGA	XP_011524509.1:p.Glu455=
XM_011526208.1:c.1324_1325delinsGA	XP_011524510.1:p.Glu442=
XM_011526209.1:c.1273_1274delinsGA	XP_011524511.1:p.Glu425=
XM_011526210.1:c.1273_1274delinsGA	XP_011524512.1:p.Glu425=
XM_011526211.1:c.1273_1274delinsGA	XP_011524513.1:p.Glu425=
XM_011526212.1:c.1273_1274delinsGA	XP_011524514.1:p.Glu425=
XM_011526213.1:c.1273_1274delinsGA	XP_011524515.1:p.Glu425=
XM_011526214.1:c.1273_1274delinsGA	XP_011524516.1:p.Glu425=
NM_030632.2:c.1441_1442delinsGA	NP_085135.1:p.Glu481=
XM_011526205.2:c.1417_1418delinsGA	XP_011524507.1:p.Glu473=
XM_011526206.2:c.1363_1364delinsGA	XP_011524508.1:p.Glu455=
XM_011526213.2:c.1273_1274delinsGA	XP_011524515.1:p.Glu425=
XM_017026012.1:c.1363_1364delinsGA	XP_016881501.1:p.Glu455=
XM_017026013.1:c.1273_1274delinsGA	XP_016881502.1:p.Glu425=
XM_017026014.2:c.1273_1274delinsGA	XP_016881503.1:p.Glu425=
XM_024451269.1:c.1273_1274delinsGA	XP_024307037.1:p.Glu425=
NM_030632.3:c.1441_1442delinsGA MANE Select	NP_085135.1:p.Glu481=