Canonical Allele Identifier: CA2294855699

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738827_33738828delinsGA , CM000680.2:g.33738827_33738828delinsGA	GRCh38
NC_000018.9:g.31318791_31318792delinsGA , CM000680.1:g.31318791_31318792delinsGA	GRCh37
NC_000018.8:g.29572789_29572790delinsGA	NCBI36
NG_055244.1:g.165251_165252delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1426_1427delinsGA	ENSP00000513003.1:p.Glu476=
ENST00000269197.12:c.1423_1424delinsGA MANE Select	ENSP00000269197.4:p.Glu475=
ENST00000592288.6:c.*547_*548delinsGA	ENSP00000465053.1:n.*547_*548delinsGA
ENST00000592541.6:c.*1082_*1083delinsGA	ENSP00000466655.2:n.*1082_*1083delinsGA
ENST00000593195.6:c.1635_1636delinsGA	ENSP00000466073.1:n.1635_1636delinsGA
ENST00000642541.1:c.1255_1256delinsGA	ENSP00000493665.1:p.Glu419=
ENST00000681521.1:c.1303_1304delinsGA	ENSP00000506037.1:p.Glu435=
ENST00000269197.9:c.1423_1424delinsGA	ENSP00000269197.4:p.Glu475=
ENST00000592288.5:c.*547_*548delinsGA	ENSP00000465053.1:n.*547_*548delinsGA
NM_030632.1:c.1423_1424delinsGA	NP_085135.1:p.Glu475=
XM_005258356.1:c.1426_1427delinsGA	XP_005258413.1:p.Glu476=
XM_011526205.1:c.1399_1400delinsGA	XP_011524507.1:p.Glu467=
XM_011526206.1:c.1345_1346delinsGA	XP_011524508.1:p.Glu449=
XM_011526207.1:c.1345_1346delinsGA	XP_011524509.1:p.Glu449=
XM_011526208.1:c.1306_1307delinsGA	XP_011524510.1:p.Glu436=
XM_011526209.1:c.1255_1256delinsGA	XP_011524511.1:p.Glu419=
XM_011526210.1:c.1255_1256delinsGA	XP_011524512.1:p.Glu419=
XM_011526211.1:c.1255_1256delinsGA	XP_011524513.1:p.Glu419=
XM_011526212.1:c.1255_1256delinsGA	XP_011524514.1:p.Glu419=
XM_011526213.1:c.1255_1256delinsGA	XP_011524515.1:p.Glu419=
XM_011526214.1:c.1255_1256delinsGA	XP_011524516.1:p.Glu419=
NM_030632.2:c.1423_1424delinsGA	NP_085135.1:p.Glu475=
XM_011526205.2:c.1399_1400delinsGA	XP_011524507.1:p.Glu467=
XM_011526206.2:c.1345_1346delinsGA	XP_011524508.1:p.Glu449=
XM_011526213.2:c.1255_1256delinsGA	XP_011524515.1:p.Glu419=
XM_017026012.1:c.1345_1346delinsGA	XP_016881501.1:p.Glu449=
XM_017026013.1:c.1255_1256delinsGA	XP_016881502.1:p.Glu419=
XM_017026014.2:c.1255_1256delinsGA	XP_016881503.1:p.Glu419=
XM_024451269.1:c.1255_1256delinsGA	XP_024307037.1:p.Glu419=
NM_030632.3:c.1423_1424delinsGA MANE Select	NP_085135.1:p.Glu475=