Canonical Allele Identifier: CA989072021

Gene: ASXL3

Linked Data

• dbSNP Id: rs2067695695
• gnomAD v3: 18-33743214-GACCTCTA-G
• gnomAD v4: 18-33743214-GACCTCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743216_33743222del , CM000680.2:g.33743216_33743222del	GRCh38
NC_000018.9:g.31323180_31323186del , CM000680.1:g.31323180_31323186del	GRCh37
NC_000018.8:g.29577178_29577184del	NCBI36
NG_055244.1:g.169640_169646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696964.1:c.3371_3377del	ENSP00000513003.1:p.Thr1124LysfsTer18
ENST00000269197.12:c.3368_3374del MANE Select	ENSP00000269197.4:p.Thr1123LysfsTer18
ENST00000592288.6:c.*2492_*2498del	ENSP00000465053.1:n.*2492_*2498del
ENST00000592541.6:c.*3027_*3033del	ENSP00000466655.2:n.*3027_*3033del
ENST00000593195.6:c.3580_3586del	ENSP00000466073.1:n.3580_3586del
ENST00000642541.1:c.3200_3206del	ENSP00000493665.1:p.Thr1067LysfsTer18
ENST00000681521.1:c.3248_3254del	ENSP00000506037.1:p.Thr1083LysfsTer18
ENST00000269197.9:c.3368_3374del	ENSP00000269197.4:p.Thr1123LysfsTer18
ENST00000592288.5:c.*2492_*2498del	ENSP00000465053.1:n.*2492_*2498del
NM_030632.1:c.3368_3374del	NP_085135.1:p.Thr1123LysfsTer18
XM_005258356.1:c.3371_3377del	XP_005258413.1:p.Thr1124LysfsTer18
XM_011526205.1:c.3344_3350del	XP_011524507.1:p.Thr1115LysfsTer18
XM_011526206.1:c.3290_3296del	XP_011524508.1:p.Thr1097LysfsTer18
XM_011526207.1:c.3290_3296del	XP_011524509.1:p.Thr1097LysfsTer18
XM_011526208.1:c.3251_3257del	XP_011524510.1:p.Thr1084LysfsTer18
XM_011526209.1:c.3200_3206del	XP_011524511.1:p.Thr1067LysfsTer18
XM_011526210.1:c.3200_3206del	XP_011524512.1:p.Thr1067LysfsTer18
XM_011526211.1:c.3200_3206del	XP_011524513.1:p.Thr1067LysfsTer18
XM_011526212.1:c.3200_3206del	XP_011524514.1:p.Thr1067LysfsTer18
XM_011526213.1:c.3200_3206del	XP_011524515.1:p.Thr1067LysfsTer18
XM_011526214.1:c.3200_3206del	XP_011524516.1:p.Thr1067LysfsTer18
XM_011526215.1:c.332_338del	XP_011524517.1:p.Thr111LysfsTer18
NM_030632.2:c.3368_3374del	NP_085135.1:p.Thr1123LysfsTer18
XM_011526205.2:c.3344_3350del	XP_011524507.1:p.Thr1115LysfsTer18
XM_011526206.2:c.3290_3296del	XP_011524508.1:p.Thr1097LysfsTer18
XM_011526213.2:c.3200_3206del	XP_011524515.1:p.Thr1067LysfsTer18
XM_017026012.1:c.3290_3296del	XP_016881501.1:p.Thr1097LysfsTer18
XM_017026013.1:c.3200_3206del	XP_016881502.1:p.Thr1067LysfsTer18
XM_017026014.2:c.3200_3206del	XP_016881503.1:p.Thr1067LysfsTer18
XM_024451269.1:c.3200_3206del	XP_024307037.1:p.Thr1067LysfsTer18
NM_030632.3:c.3368_3374del MANE Select	NP_085135.1:p.Thr1123LysfsTer18