Canonical Allele Identifier: CA16044280
Gene: ASXL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 375461
ClinVar RCV Id: RCV000416511
dbSNP Id: rs1057519498

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.33739365dup , CM000680.2:g.33739365dup GRCh38
NC_000018.9:g.31319329dup , CM000680.1:g.31319329dup GRCh37
NC_000018.8:g.29573327dup NCBI36
NG_055244.1:g.165789dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696964.1:c.1964dup ENSP00000513003.1:p.Ser656Ter
ENST00000269197.12:c.1961dup MANE Select ENSP00000269197.4:p.Ser655Ter
ENST00000592288.6:c.*1085dup ENSP00000465053.1:n.*1085dup
ENST00000592541.6:c.*1620dup ENSP00000466655.2:n.*1620dup
ENST00000593195.6:c.2173dup ENSP00000466073.1:n.2173dup
ENST00000642541.1:c.1793dup ENSP00000493665.1:p.Ser599Ter
ENST00000681521.1:c.1841dup ENSP00000506037.1:p.Ser615Ter
ENST00000269197.9:c.1961dup ENSP00000269197.4:p.Ser655Ter
ENST00000592288.5:c.*1085dup ENSP00000465053.1:n.*1085dup
NM_030632.1:c.1961dup NP_085135.1:p.Ser655Ter
XM_005258356.1:c.1964dup XP_005258413.1:p.Ser656Ter
XM_011526205.1:c.1937dup XP_011524507.1:p.Ser647Ter
XM_011526206.1:c.1883dup XP_011524508.1:p.Ser629Ter
XM_011526207.1:c.1883dup XP_011524509.1:p.Ser629Ter
XM_011526208.1:c.1844dup XP_011524510.1:p.Ser616Ter
XM_011526209.1:c.1793dup XP_011524511.1:p.Ser599Ter
XM_011526210.1:c.1793dup XP_011524512.1:p.Ser599Ter
XM_011526211.1:c.1793dup XP_011524513.1:p.Ser599Ter
XM_011526212.1:c.1793dup XP_011524514.1:p.Ser599Ter
XM_011526213.1:c.1793dup XP_011524515.1:p.Ser599Ter
XM_011526214.1:c.1793dup XP_011524516.1:p.Ser599Ter
NM_030632.2:c.1961dup NP_085135.1:p.Ser655Ter
XM_011526205.2:c.1937dup XP_011524507.1:p.Ser647Ter
XM_011526206.2:c.1883dup XP_011524508.1:p.Ser629Ter
XM_011526213.2:c.1793dup XP_011524515.1:p.Ser599Ter
XM_017026012.1:c.1883dup XP_016881501.1:p.Ser629Ter
XM_017026013.1:c.1793dup XP_016881502.1:p.Ser599Ter
XM_017026014.2:c.1793dup XP_016881503.1:p.Ser599Ter
XM_024451269.1:c.1793dup XP_024307037.1:p.Ser599Ter
NM_030632.3:c.1961dup MANE Select NP_085135.1:p.Ser655Ter