Canonical Allele Identifier: CA989072016

Gene: ASXL3

Linked Data

• dbSNP Id: rs2067695511
• gnomAD v3: 18-33743208-CTTCCA-C
• gnomAD v4: 18-33743208-CTTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743209_33743213del , CM000680.2:g.33743209_33743213del	GRCh38
NC_000018.9:g.31323173_31323177del , CM000680.1:g.31323173_31323177del	GRCh37
NC_000018.8:g.29577171_29577175del	NCBI36
NG_055244.1:g.169633_169637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3364_3368del	ENSP00000513003.1:p.Phe1122AspfsTer3
ENST00000269197.12:c.3361_3365del MANE Select	ENSP00000269197.4:p.Phe1121AspfsTer3
ENST00000592288.6:c.*2485_*2489del	ENSP00000465053.1:n.*2485_*2489del
ENST00000592541.6:c.*3020_*3024del	ENSP00000466655.2:n.*3020_*3024del
ENST00000593195.6:c.3573_3577del	ENSP00000466073.1:n.3573_3577del
ENST00000642541.1:c.3193_3197del	ENSP00000493665.1:p.Phe1065AspfsTer3
ENST00000681521.1:c.3241_3245del	ENSP00000506037.1:p.Phe1081AspfsTer3
ENST00000269197.9:c.3361_3365del	ENSP00000269197.4:p.Phe1121AspfsTer3
ENST00000592288.5:c.*2485_*2489del	ENSP00000465053.1:n.*2485_*2489del
NM_030632.1:c.3361_3365del	NP_085135.1:p.Phe1121AspfsTer3
XM_005258356.1:c.3364_3368del	XP_005258413.1:p.Phe1122AspfsTer3
XM_011526205.1:c.3337_3341del	XP_011524507.1:p.Phe1113AspfsTer3
XM_011526206.1:c.3283_3287del	XP_011524508.1:p.Phe1095AspfsTer3
XM_011526207.1:c.3283_3287del	XP_011524509.1:p.Phe1095AspfsTer3
XM_011526208.1:c.3244_3248del	XP_011524510.1:p.Phe1082AspfsTer3
XM_011526209.1:c.3193_3197del	XP_011524511.1:p.Phe1065AspfsTer3
XM_011526210.1:c.3193_3197del	XP_011524512.1:p.Phe1065AspfsTer3
XM_011526211.1:c.3193_3197del	XP_011524513.1:p.Phe1065AspfsTer3
XM_011526212.1:c.3193_3197del	XP_011524514.1:p.Phe1065AspfsTer3
XM_011526213.1:c.3193_3197del	XP_011524515.1:p.Phe1065AspfsTer3
XM_011526214.1:c.3193_3197del	XP_011524516.1:p.Phe1065AspfsTer3
XM_011526215.1:c.325_329del	XP_011524517.1:p.Phe109AspfsTer3
NM_030632.2:c.3361_3365del	NP_085135.1:p.Phe1121AspfsTer3
XM_011526205.2:c.3337_3341del	XP_011524507.1:p.Phe1113AspfsTer3
XM_011526206.2:c.3283_3287del	XP_011524508.1:p.Phe1095AspfsTer3
XM_011526213.2:c.3193_3197del	XP_011524515.1:p.Phe1065AspfsTer3
XM_017026012.1:c.3283_3287del	XP_016881501.1:p.Phe1095AspfsTer3
XM_017026013.1:c.3193_3197del	XP_016881502.1:p.Phe1065AspfsTer3
XM_017026014.2:c.3193_3197del	XP_016881503.1:p.Phe1065AspfsTer3
XM_024451269.1:c.3193_3197del	XP_024307037.1:p.Phe1065AspfsTer3
NM_030632.3:c.3361_3365del MANE Select	NP_085135.1:p.Phe1121AspfsTer3