Linked Data
ClinVar Variation Id:
252324
ClinVar RCV Id:
RCV000238250
dbSNP Id:
rs879255200
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129526_11129529del , CM000681.2:g.11129526_11129529del | GRCh38 |
| NC_000019.9:g.11240202_11240205del , CM000681.1:g.11240202_11240205del | GRCh37 |
| NC_000019.8:g.11101202_11101205del | NCBI36 |
| NG_009060.1:g.45146_45149del , LRG_274:g.45146_45149del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2661_2664del | ENSP00000252444.6:p.Leu888AlafsTer? | |
| ENST00000559340.2:c.*472_*475del | ENSP00000453696.2:n.*472_*475del | |
| ENST00000560467.2:c.2283_2286del | ENSP00000453513.2:p.Leu762AlafsTer? | |
| ENST00000558518.6:c.2403_2406del MANE Select | ENSP00000454071.1:p.Leu802AlafsTer? | |
| ENST00000252444.9:c.2657_2660del | ||
| ENST00000455727.6:c.1899_1902del | ENSP00000397829.2:p.Leu634AlafsTer? | |
| ENST00000535915.5:c.2280_2283del | ENSP00000440520.1:p.Leu761AlafsTer? | |
| ENST00000545707.5:c.1869_1872del | ENSP00000437639.1:p.Leu624AlafsTer? | |
| ENST00000557933.5:c.2465_2468del | ENSP00000453557.1:p.Ser822LeufsTer14 | |
| ENST00000558013.5:c.2403_2406del | ENSP00000453346.1:p.Leu802AlafsTer? | |
| ENST00000558518.5:c.2403_2406del | ENSP00000454071.1:p.Leu802AlafsTer? | |
| ENST00000560628.1:n.108+1872_108+1875del | ||
| NM_000527.4:c.2403_2406del , LRG_274t1:c.2403_2406del | NP_000518.1:p.Leu802AlafsTer? | |
| NM_001195798.1:c.2403_2406del | NP_001182727.1:p.Leu802AlafsTer? | |
| NM_001195799.1:c.2280_2283del | NP_001182728.1:p.Leu761AlafsTer? | |
| NM_001195800.1:c.1899_1902del | NP_001182729.1:p.Leu634AlafsTer? | |
| NM_001195803.1:c.1869_1872del | NP_001182732.1:p.Leu624AlafsTer? | |
| XM_011528010.1:c.2325_2328del | XP_011526312.1:p.Leu776AlafsTer? | |
| XM_011528011.1:c.2022_2025del | XP_011526313.1:p.Leu675AlafsTer? | |
| XR_244074.2:n.2413_2416del | ||
| XM_011528010.2:c.2325_2328del | XP_011526312.1:p.Leu776AlafsTer? | |
| XR_001753685.2:n.2737_2740del | ||
| XR_001753686.2:n.2380_2383del | ||
| NM_000527.5:c.2403_2406del MANE Select | NP_000518.1:p.Leu802AlafsTer? | |
| NM_001195798.2:c.2403_2406del | NP_001182727.1:p.Leu802AlafsTer? | |
| NM_001195799.2:c.2280_2283del | NP_001182728.1:p.Leu761AlafsTer? | |
| NM_001195800.2:c.1899_1902del | NP_001182729.1:p.Leu634AlafsTer? | |
| NM_001195803.2:c.1869_1872del | NP_001182732.1:p.Leu624AlafsTer? |