Canonical Allele Identifier: CA2580612973

Gene: ASXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738781_33738782del , CM000680.2:g.33738781_33738782del	GRCh38
NC_000018.9:g.31318745_31318746del , CM000680.1:g.31318745_31318746del	GRCh37
NC_000018.8:g.29572743_29572744del	NCBI36
NG_055244.1:g.165205_165206del

Transcript Alleles

HGVS	Amino-acid Change
NM_030632.3:c.1377_1378del MANE Select	NP_085135.1:p.Glu459AspfsTer2
ENST00000269197.12:c.1377_1378del MANE Select	ENSP00000269197.4:p.Glu459AspfsTer2
NM_030632.1:c.1377_1378del	NP_085135.1:p.Glu459AspfsTer2
NM_030632.2:c.1377_1378del	NP_085135.1:p.Glu459AspfsTer2
ENST00000269197.9:c.1377_1378del	ENSP00000269197.4:p.Glu459AspfsTer2
ENST00000592288.5:c.*501_*502del	ENSP00000465053.1:n.*501_*502del
ENST00000592288.6:c.*501_*502del	ENSP00000465053.1:n.*501_*502del
ENST00000592541.6:c.*1036_*1037del	ENSP00000466655.2:n.*1036_*1037del
ENST00000593195.6:c.1589_1590del	ENSP00000466073.1:n.1589_1590del
ENST00000642541.1:c.1209_1210del	ENSP00000493665.1:p.Glu403AspfsTer2
ENST00000681521.1:c.1257_1258del	ENSP00000506037.1:p.Glu419AspfsTer2
ENST00000696964.1:c.1380_1381del	ENSP00000513003.1:p.Glu460AspfsTer2
XM_005258356.1:c.1380_1381del	XP_005258413.1:p.Glu460AspfsTer2
XM_011526205.1:c.1353_1354del	XP_011524507.1:p.Glu451AspfsTer2
XM_011526205.2:c.1353_1354del	XP_011524507.1:p.Glu451AspfsTer2
XM_011526206.1:c.1299_1300del	XP_011524508.1:p.Glu433AspfsTer2
XM_011526206.2:c.1299_1300del	XP_011524508.1:p.Glu433AspfsTer2
XM_011526207.1:c.1299_1300del	XP_011524509.1:p.Glu433AspfsTer2
XM_011526208.1:c.1260_1261del	XP_011524510.1:p.Glu420AspfsTer2
XM_011526209.1:c.1209_1210del	XP_011524511.1:p.Glu403AspfsTer2
XM_011526210.1:c.1209_1210del	XP_011524512.1:p.Glu403AspfsTer2
XM_011526211.1:c.1209_1210del	XP_011524513.1:p.Glu403AspfsTer2
XM_011526212.1:c.1209_1210del	XP_011524514.1:p.Glu403AspfsTer2
XM_011526213.1:c.1209_1210del	XP_011524515.1:p.Glu403AspfsTer2
XM_011526213.2:c.1209_1210del	XP_011524515.1:p.Glu403AspfsTer2
XM_011526214.1:c.1209_1210del	XP_011524516.1:p.Glu403AspfsTer2
XM_017026012.1:c.1299_1300del	XP_016881501.1:p.Glu433AspfsTer2
XM_017026013.1:c.1209_1210del	XP_016881502.1:p.Glu403AspfsTer2
XM_017026014.2:c.1209_1210del	XP_016881503.1:p.Glu403AspfsTer2
XM_024451269.1:c.1209_1210del	XP_024307037.1:p.Glu403AspfsTer2