Canonical Allele Identifier: CA1139666018

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 985853
• ClinVar RCV Id: RCV001266975
• dbSNP Id: rs2067597366

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33738883_33738884insTGCT , CM000680.2:g.33738883_33738884insTGCT	GRCh38
NC_000018.9:g.31318847_31318848insTGCT , CM000680.1:g.31318847_31318848insTGCT	GRCh37
NC_000018.8:g.29572845_29572846insTGCT	NCBI36
NG_055244.1:g.165307_165308insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.1482_1483insTGCT	ENSP00000513003.1:p.Pro495CysfsTer4
ENST00000269197.12:c.1479_1480insTGCT MANE Select	ENSP00000269197.4:p.Pro494CysfsTer4
ENST00000592288.6:c.*603_*604insTGCT	ENSP00000465053.1:n.*603_*604insTGCT
ENST00000592541.6:c.*1138_*1139insTGCT	ENSP00000466655.2:n.*1138_*1139insTGCT
ENST00000593195.6:c.1691_1692insTGCT	ENSP00000466073.1:n.1691_1692insTGCT
ENST00000642541.1:c.1311_1312insTGCT	ENSP00000493665.1:p.Pro438CysfsTer4
ENST00000681521.1:c.1359_1360insTGCT	ENSP00000506037.1:p.Pro454CysfsTer4
ENST00000269197.9:c.1479_1480insTGCT	ENSP00000269197.4:p.Pro494CysfsTer4
ENST00000592288.5:c.*603_*604insTGCT	ENSP00000465053.1:n.*603_*604insTGCT
NM_030632.1:c.1479_1480insTGCT	NP_085135.1:p.Pro494CysfsTer4
XM_005258356.1:c.1482_1483insTGCT	XP_005258413.1:p.Pro495CysfsTer4
XM_011526205.1:c.1455_1456insTGCT	XP_011524507.1:p.Pro486CysfsTer4
XM_011526206.1:c.1401_1402insTGCT	XP_011524508.1:p.Pro468CysfsTer4
XM_011526207.1:c.1401_1402insTGCT	XP_011524509.1:p.Pro468CysfsTer4
XM_011526208.1:c.1362_1363insTGCT	XP_011524510.1:p.Pro455CysfsTer4
XM_011526209.1:c.1311_1312insTGCT	XP_011524511.1:p.Pro438CysfsTer4
XM_011526210.1:c.1311_1312insTGCT	XP_011524512.1:p.Pro438CysfsTer4
XM_011526211.1:c.1311_1312insTGCT	XP_011524513.1:p.Pro438CysfsTer4
XM_011526212.1:c.1311_1312insTGCT	XP_011524514.1:p.Pro438CysfsTer4
XM_011526213.1:c.1311_1312insTGCT	XP_011524515.1:p.Pro438CysfsTer4
XM_011526214.1:c.1311_1312insTGCT	XP_011524516.1:p.Pro438CysfsTer4
NM_030632.2:c.1479_1480insTGCT	NP_085135.1:p.Pro494CysfsTer4
XM_011526205.2:c.1455_1456insTGCT	XP_011524507.1:p.Pro486CysfsTer4
XM_011526206.2:c.1401_1402insTGCT	XP_011524508.1:p.Pro468CysfsTer4
XM_011526213.2:c.1311_1312insTGCT	XP_011524515.1:p.Pro438CysfsTer4
XM_017026012.1:c.1401_1402insTGCT	XP_016881501.1:p.Pro468CysfsTer4
XM_017026013.1:c.1311_1312insTGCT	XP_016881502.1:p.Pro438CysfsTer4
XM_017026014.2:c.1311_1312insTGCT	XP_016881503.1:p.Pro438CysfsTer4
XM_024451269.1:c.1311_1312insTGCT	XP_024307037.1:p.Pro438CysfsTer4
NM_030632.3:c.1479_1480insTGCT MANE Select	NP_085135.1:p.Pro494CysfsTer4