Linked Data
dbSNP Id:
rs41514846
gnomAD v2:
9-130577492-C-CAGTT
gnomAD v3:
9-127815213-C-CAGTT
gnomAD v4:
9-127815213-C-CAGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815220_127815223dup , CM000671.2:g.127815220_127815223dup | GRCh38 |
| NC_000009.11:g.130577499_130577502dup , CM000671.1:g.130577499_130577502dup | GRCh37 |
| NC_000009.10:g.129617320_129617323dup | NCBI36 |
| NG_009551.1:g.44552_44555dup , LRG_589:g.44552_44555dup | |
| NG_023245.1:g.17346_17349dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*465_*468dup | ENSP00000479015.1:n.*465_*468dup | |
| ENST00000373203.9:c.*465_*468dup MANE Select | ENSP00000362299.4:n.*465_*468dup | |
| ENST00000344849.4:c.*700_*703dup | ENSP00000341917.3:n.*700_*703dup | |
| ENST00000373203.8:c.*465_*468dup | ENSP00000362299.4:n.*465_*468dup | |
| ENST00000480266.5:c.*465_*468dup | ENSP00000479015.1:n.*465_*468dup | |
| NM_000118.3:c.*700_*703dup , LRG_589t1:c.*700_*703dup | NP_000109.1:n.*700_*703dup | |
| NM_001114753.2:c.*465_*468dup , LRG_589t2:c.*465_*468dup | NP_001108225.1:n.*465_*468dup | |
| NM_001278138.1:c.*465_*468dup | NP_001265067.1:n.*465_*468dup | |
| NM_001114753.3:c.*465_*468dup MANE Select | NP_001108225.1:n.*465_*468dup | |
| NM_001278138.2:c.*465_*468dup | NP_001265067.1:n.*465_*468dup |