Linked Data
ClinVar Variation Id:
393466
ClinVar RCV Id:
RCV000445555
dbSNP Id:
rs1057524916
PubMed:
PMID:27652284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244856558dup , CM000663.2:g.244856558dup | GRCh38 |
| NC_000001.10:g.245019860dup , CM000663.1:g.245019860dup | GRCh37 |
| NC_000001.9:g.243086483dup | NCBI36 |
| NG_042184.1:g.12969dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639628.2:c.984dup | ENSP00000491340.1:p.Val329CysfsTer7 | |
| ENST00000704074.1:c.1433dup | ||
| ENST00000283179.14:c.1569dup | ENSP00000283179.10:p.Val524CysfsTer7 | |
| ENST00000366525.8:n.1425dup | ||
| ENST00000440865.2:c.1143dup | ENSP00000410728.2:p.Val382CysfsTer7 | |
| ENST00000444376.7:c.1755dup | ENSP00000393151.2:p.Val586CysfsTer7 | |
| ENST00000468690.2:n.2906dup | ||
| ENST00000476241.2:n.3926dup | ||
| ENST00000483966.3:c.795dup | ENSP00000492573.1:p.Val266CysfsTer7 | |
| ENST00000638230.1:c.922dup | ||
| ENST00000638301.1:c.984dup | ENSP00000491807.1:p.Val329CysfsTer7 | |
| ENST00000638475.1:c.1521dup | ENSP00000491305.1:p.Val508CysfsTer7 | |
| ENST00000638716.1:c.978dup | ENSP00000491601.1:p.Val327CysfsTer7 | |
| ENST00000638952.1:n.4029dup | ||
| ENST00000639064.1:n.569dup | ||
| ENST00000639628.1:c.984dup | ENSP00000491340.1:p.Val329CysfsTer7 | |
| ENST00000639824.1:c.388dup | ||
| ENST00000639880.1:c.*748dup | ENSP00000490988.1:n.*748dup | |
| ENST00000640001.1:c.984dup | ENSP00000491294.1:p.Val329CysfsTer7 | |
| ENST00000640056.1:c.1135dup | ENSP00000492620.1:n.1135dup | |
| ENST00000640119.1:c.123+171dup | ENSP00000491491.1:n.123+171dup | |
| ENST00000640218.2:c.1812dup MANE Select | ENSP00000491215.1:p.Val605CysfsTer7 | |
| ENST00000640306.1:c.1755dup | ENSP00000491685.1:p.Val586CysfsTer7 | |
| ENST00000649899.1:n.1979dup | ||
| ENST00000283179.13:c.1812dup | ENSP00000283179.9:p.Val605CysfsTer7 | |
| ENST00000366525.7:n.1552dup | ||
| ENST00000444376.6:c.1755dup | ENSP00000393151.2:p.Val586CysfsTer7 | |
| ENST00000468690.1:n.418dup | ||
| ENST00000483966.2:n.318dup | ||
| NM_004501.3:c.1755dup | NP_004492.2:p.Val586CysfsTer7 | |
| NM_031844.2:c.1812dup | NP_114032.2:p.Val605CysfsTer7 | |
| NM_031844.3:c.1812dup MANE Select | NP_114032.2:p.Val605CysfsTer7 |