Canonical Allele Identifier: CA297785280

Gene: ASXL3

Linked Data

• dbSNP Id: rs113102039
• gnomAD v2: 18-31315967-TATTTC-T
• gnomAD v3: 18-33736003-TATTTC-T
• gnomAD v4: 18-33736003-TATTTC-T
• MyVariant Identifiers: chr18:g.31315968_31315972del (hg19) ; chr18:g.33736004_33736008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33736008_33736012del , CM000680.2:g.33736008_33736012del	GRCh38
NC_000018.9:g.31315972_31315976del , CM000680.1:g.31315972_31315976del	GRCh37
NC_000018.8:g.29569970_29569974del	NCBI36
NG_055244.1:g.162432_162436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1085+1593_1085+1597del	ENSP00000513003.1:n.1085+1593_1085+1597del
ENST00000269197.12:c.1082+1593_1082+1597del MANE Select	ENSP00000269197.4:n.1082+1593_1082+1597del
ENST00000592288.6:c.*206+1593_*206+1597del	ENSP00000465053.1:n.*206+1593_*206+1597del
ENST00000592541.6:c.*741+1593_*741+1597del	ENSP00000466655.2:n.*741+1593_*741+1597del
ENST00000593195.6:c.1294+1593_1294+1597del	ENSP00000466073.1:n.1294+1593_1294+1597del
ENST00000642541.1:c.914+1593_914+1597del	ENSP00000493665.1:n.914+1593_914+1597del
ENST00000681521.1:c.962+1593_962+1597del	ENSP00000506037.1:n.962+1593_962+1597del
ENST00000269197.9:c.1082+1593_1082+1597del	ENSP00000269197.4:n.1082+1593_1082+1597del
ENST00000592288.5:c.*206+1593_*206+1597del	ENSP00000465053.1:n.*206+1593_*206+1597del
NM_030632.1:c.1082+1593_1082+1597del	NP_085135.1:n.1082+1593_1082+1597del
XM_005258356.1:c.1085+1593_1085+1597del	XP_005258413.1:n.1085+1593_1085+1597del
XM_011526205.1:c.1058+1593_1058+1597del	XP_011524507.1:n.1058+1593_1058+1597del
XM_011526206.1:c.1004+1593_1004+1597del	XP_011524508.1:n.1004+1593_1004+1597del
XM_011526207.1:c.1004+1593_1004+1597del	XP_011524509.1:n.1004+1593_1004+1597del
XM_011526208.1:c.965+1593_965+1597del	XP_011524510.1:n.965+1593_965+1597del
XM_011526209.1:c.914+1593_914+1597del	XP_011524511.1:n.914+1593_914+1597del
XM_011526210.1:c.914+1593_914+1597del	XP_011524512.1:n.914+1593_914+1597del
XM_011526211.1:c.914+1593_914+1597del	XP_011524513.1:n.914+1593_914+1597del
XM_011526212.1:c.914+1593_914+1597del	XP_011524514.1:n.914+1593_914+1597del
XM_011526213.1:c.914+1593_914+1597del	XP_011524515.1:n.914+1593_914+1597del
XM_011526214.1:c.914+1593_914+1597del	XP_011524516.1:n.914+1593_914+1597del
NM_030632.2:c.1082+1593_1082+1597del	NP_085135.1:n.1082+1593_1082+1597del
XM_011526205.2:c.1058+1593_1058+1597del	XP_011524507.1:n.1058+1593_1058+1597del
XM_011526206.2:c.1004+1593_1004+1597del	XP_011524508.1:n.1004+1593_1004+1597del
XM_011526213.2:c.914+1593_914+1597del	XP_011524515.1:n.914+1593_914+1597del
XM_017026012.1:c.1004+1593_1004+1597del	XP_016881501.1:n.1004+1593_1004+1597del
XM_017026013.1:c.914+1593_914+1597del	XP_016881502.1:n.914+1593_914+1597del
XM_017026014.2:c.914+1593_914+1597del	XP_016881503.1:n.914+1593_914+1597del
XM_024451269.1:c.914+1593_914+1597del	XP_024307037.1:n.914+1593_914+1597del
NM_030632.3:c.1082+1593_1082+1597del MANE Select	NP_085135.1:n.1082+1593_1082+1597del