Linked Data
ClinVar Variation Id:
252332
ClinVar RCV Id:
RCV000237981
dbSNP Id:
rs879255207
PubMed:
PMID:17539906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129540_11129541insGG , CM000681.2:g.11129540_11129541insGG | GRCh38 |
| NC_000019.9:g.11240216_11240217insGG , CM000681.1:g.11240216_11240217insGG | GRCh37 |
| NC_000019.8:g.11101216_11101217insGG | NCBI36 |
| NG_009060.1:g.45160_45161insGG , LRG_274:g.45160_45161insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2675_2676insGG | ENSP00000252444.6:p.Phe893AlafsTer? | |
| ENST00000559340.2:c.*486_*487insGG | ENSP00000453696.2:n.*486_*487insGG | |
| ENST00000560467.2:c.2297_2298insGG | ENSP00000453513.2:p.Phe767AlafsTer? | |
| ENST00000558518.6:c.2417_2418insGG MANE Select | ENSP00000454071.1:p.Phe807AlafsTer? | |
| ENST00000252444.9:c.2671_2672insGG | ||
| ENST00000455727.6:c.1913_1914insGG | ENSP00000397829.2:p.Phe639AlafsTer? | |
| ENST00000535915.5:c.2294_2295insGG | ENSP00000440520.1:p.Phe766AlafsTer? | |
| ENST00000545707.5:c.1883_1884insGG | ENSP00000437639.1:p.Phe629AlafsTer? | |
| ENST00000557933.5:c.2479_2480insGG | ENSP00000453557.1:p.Ser827TrpfsTer11 | |
| ENST00000558013.5:c.2417_2418insGG | ENSP00000453346.1:p.Phe807AlafsTer? | |
| ENST00000558518.5:c.2417_2418insGG | ENSP00000454071.1:p.Phe807AlafsTer? | |
| ENST00000560628.1:n.108+1886_108+1887insGG | ||
| NM_000527.4:c.2417_2418insGG , LRG_274t1:c.2417_2418insGG | NP_000518.1:p.Phe807AlafsTer? | |
| NM_001195798.1:c.2417_2418insGG | NP_001182727.1:p.Phe807AlafsTer? | |
| NM_001195799.1:c.2294_2295insGG | NP_001182728.1:p.Phe766AlafsTer? | |
| NM_001195800.1:c.1913_1914insGG | NP_001182729.1:p.Phe639AlafsTer? | |
| NM_001195803.1:c.1883_1884insGG | NP_001182732.1:p.Phe629AlafsTer? | |
| XM_011528010.1:c.2339_2340insGG | XP_011526312.1:p.Phe781AlafsTer? | |
| XM_011528011.1:c.2036_2037insGG | XP_011526313.1:p.Phe680AlafsTer? | |
| XR_244074.2:n.2427_2428insGG | ||
| XM_011528010.2:c.2339_2340insGG | XP_011526312.1:p.Phe781AlafsTer? | |
| XR_001753685.2:n.2751_2752insGG | ||
| XR_001753686.2:n.2394_2395insGG | ||
| NM_000527.5:c.2417_2418insGG MANE Select | NP_000518.1:p.Phe807AlafsTer? | |
| NM_001195798.2:c.2417_2418insGG | NP_001182727.1:p.Phe807AlafsTer? | |
| NM_001195799.2:c.2294_2295insGG | NP_001182728.1:p.Phe766AlafsTer? | |
| NM_001195800.2:c.1913_1914insGG | NP_001182729.1:p.Phe639AlafsTer? | |
| NM_001195803.2:c.1883_1884insGG | NP_001182732.1:p.Phe629AlafsTer? |