Linked Data
ClinVar Variation Id:
252331
ClinVar RCV Id:
RCV000237539
dbSNP Id:
rs879255207
PubMed:
PMID:17765246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129540_11129541insG , CM000681.2:g.11129540_11129541insG | GRCh38 |
| NC_000019.9:g.11240216_11240217insG , CM000681.1:g.11240216_11240217insG | GRCh37 |
| NC_000019.8:g.11101216_11101217insG | NCBI36 |
| NG_009060.1:g.45160_45161insG , LRG_274:g.45160_45161insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2675_2676insG | ENSP00000252444.6:p.Phe893LeufsTer10 | |
| ENST00000559340.2:c.*486_*487insG | ENSP00000453696.2:n.*486_*487insG | |
| ENST00000560467.2:c.2297_2298insG | ENSP00000453513.2:p.Phe767LeufsTer10 | |
| ENST00000558518.6:c.2417_2418insG MANE Select | ENSP00000454071.1:p.Phe807LeufsTer10 | |
| ENST00000252444.9:c.2671_2672insG | ||
| ENST00000455727.6:c.1913_1914insG | ENSP00000397829.2:p.Phe639LeufsTer10 | |
| ENST00000535915.5:c.2294_2295insG | ENSP00000440520.1:p.Phe766LeufsTer10 | |
| ENST00000545707.5:c.1883_1884insG | ENSP00000437639.1:p.Phe629LeufsTer10 | |
| ENST00000557933.5:c.2479_2480insG | ENSP00000453557.1:p.Ser827CysfsTer? | |
| ENST00000558013.5:c.2417_2418insG | ENSP00000453346.1:p.Phe807LeufsTer10 | |
| ENST00000558518.5:c.2417_2418insG | ENSP00000454071.1:p.Phe807LeufsTer10 | |
| ENST00000560628.1:n.108+1886_108+1887insG | ||
| NM_000527.4:c.2417_2418insG , LRG_274t1:c.2417_2418insG | NP_000518.1:p.Phe807LeufsTer10 | |
| NM_001195798.1:c.2417_2418insG | NP_001182727.1:p.Phe807LeufsTer10 | |
| NM_001195799.1:c.2294_2295insG | NP_001182728.1:p.Phe766LeufsTer10 | |
| NM_001195800.1:c.1913_1914insG | NP_001182729.1:p.Phe639LeufsTer10 | |
| NM_001195803.1:c.1883_1884insG | NP_001182732.1:p.Phe629LeufsTer10 | |
| XM_011528010.1:c.2339_2340insG | XP_011526312.1:p.Phe781LeufsTer10 | |
| XM_011528011.1:c.2036_2037insG | XP_011526313.1:p.Phe680LeufsTer10 | |
| XR_244074.2:n.2427_2428insG | ||
| XM_011528010.2:c.2339_2340insG | XP_011526312.1:p.Phe781LeufsTer10 | |
| XR_001753685.2:n.2751_2752insG | ||
| XR_001753686.2:n.2394_2395insG | ||
| NM_000527.5:c.2417_2418insG MANE Select | NP_000518.1:p.Phe807LeufsTer10 | |
| NM_001195798.2:c.2417_2418insG | NP_001182727.1:p.Phe807LeufsTer10 | |
| NM_001195799.2:c.2294_2295insG | NP_001182728.1:p.Phe766LeufsTer10 | |
| NM_001195800.2:c.1913_1914insG | NP_001182729.1:p.Phe639LeufsTer10 | |
| NM_001195803.2:c.1883_1884insG | NP_001182732.1:p.Phe629LeufsTer10 |