Canonical Allele Identifier: CA1139666017

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 984873
• ClinVar RCV Id: RCV001265443
• dbSNP Id: rs2067597244

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738883_33738884del , CM000680.2:g.33738883_33738884del	GRCh38
NC_000018.9:g.31318847_31318848del , CM000680.1:g.31318847_31318848del	GRCh37
NC_000018.8:g.29572845_29572846del	NCBI36
NG_055244.1:g.165307_165308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1482_1483del	ENSP00000513003.1:p.Pro495SerfsTer2
ENST00000269197.12:c.1479_1480del MANE Select	ENSP00000269197.4:p.Pro494SerfsTer2
ENST00000592288.6:c.*603_*604del	ENSP00000465053.1:n.*603_*604del
ENST00000592541.6:c.*1138_*1139del	ENSP00000466655.2:n.*1138_*1139del
ENST00000593195.6:c.1691_1692del	ENSP00000466073.1:n.1691_1692del
ENST00000642541.1:c.1311_1312del	ENSP00000493665.1:p.Pro438SerfsTer2
ENST00000681521.1:c.1359_1360del	ENSP00000506037.1:p.Pro454SerfsTer2
ENST00000269197.9:c.1479_1480del	ENSP00000269197.4:p.Pro494SerfsTer2
ENST00000592288.5:c.*603_*604del	ENSP00000465053.1:n.*603_*604del
NM_030632.1:c.1479_1480del	NP_085135.1:p.Pro494SerfsTer2
XM_005258356.1:c.1482_1483del	XP_005258413.1:p.Pro495SerfsTer2
XM_011526205.1:c.1455_1456del	XP_011524507.1:p.Pro486SerfsTer2
XM_011526206.1:c.1401_1402del	XP_011524508.1:p.Pro468SerfsTer2
XM_011526207.1:c.1401_1402del	XP_011524509.1:p.Pro468SerfsTer2
XM_011526208.1:c.1362_1363del	XP_011524510.1:p.Pro455SerfsTer2
XM_011526209.1:c.1311_1312del	XP_011524511.1:p.Pro438SerfsTer2
XM_011526210.1:c.1311_1312del	XP_011524512.1:p.Pro438SerfsTer2
XM_011526211.1:c.1311_1312del	XP_011524513.1:p.Pro438SerfsTer2
XM_011526212.1:c.1311_1312del	XP_011524514.1:p.Pro438SerfsTer2
XM_011526213.1:c.1311_1312del	XP_011524515.1:p.Pro438SerfsTer2
XM_011526214.1:c.1311_1312del	XP_011524516.1:p.Pro438SerfsTer2
NM_030632.2:c.1479_1480del	NP_085135.1:p.Pro494SerfsTer2
XM_011526205.2:c.1455_1456del	XP_011524507.1:p.Pro486SerfsTer2
XM_011526206.2:c.1401_1402del	XP_011524508.1:p.Pro468SerfsTer2
XM_011526213.2:c.1311_1312del	XP_011524515.1:p.Pro438SerfsTer2
XM_017026012.1:c.1401_1402del	XP_016881501.1:p.Pro468SerfsTer2
XM_017026013.1:c.1311_1312del	XP_016881502.1:p.Pro438SerfsTer2
XM_017026014.2:c.1311_1312del	XP_016881503.1:p.Pro438SerfsTer2
XM_024451269.1:c.1311_1312del	XP_024307037.1:p.Pro438SerfsTer2
NM_030632.3:c.1479_1480del MANE Select	NP_085135.1:p.Pro494SerfsTer2