Linked Data
ClinVar Variation Id:
251872
ClinVar RCV Id:
RCV000237228
dbSNP Id:
rs879254923
PubMed:
PMID:19318025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113674_11113675del , CM000681.2:g.11113674_11113675del | GRCh38 |
| NC_000019.9:g.11224350_11224351del , CM000681.1:g.11224350_11224351del | GRCh37 |
| NC_000019.8:g.11085350_11085351del | NCBI36 |
| NG_009060.1:g.29294_29295del , LRG_274:g.29294_29295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1756_1757del | ENSP00000252444.6:p.Val586CysfsTer? | |
| ENST00000559340.2:c.1498_1499del | ENSP00000453696.2:p.Val500CysfsTer? | |
| ENST00000560467.2:c.1378_1379del | ENSP00000453513.2:p.Val460CysfsTer? | |
| ENST00000558518.6:c.1498_1499del MANE Select | ENSP00000454071.1:p.Val500CysfsTer? | |
| ENST00000252444.9:c.1752_1753del | ||
| ENST00000455727.6:c.994_995del | ENSP00000397829.2:p.Val332CysfsTer? | |
| ENST00000535915.5:c.1375_1376del | ENSP00000440520.1:p.Val459CysfsTer? | |
| ENST00000545707.5:c.1117_1118del | ENSP00000437639.1:p.Val373CysfsTer? | |
| ENST00000557933.5:c.1498_1499del | ENSP00000453557.1:p.Val500CysfsTer? | |
| ENST00000558013.5:c.1498_1499del | ENSP00000453346.1:p.Val500CysfsTer? | |
| ENST00000558518.5:c.1498_1499del | ENSP00000454071.1:p.Val500CysfsTer? | |
| ENST00000559340.1:c.219_220del | ||
| NM_000527.4:c.1498_1499del , LRG_274t1:c.1498_1499del | NP_000518.1:p.Val500CysfsTer? | |
| NM_001195798.1:c.1498_1499del | NP_001182727.1:p.Val500CysfsTer? | |
| NM_001195799.1:c.1375_1376del | NP_001182728.1:p.Val459CysfsTer? | |
| NM_001195800.1:c.994_995del | NP_001182729.1:p.Val332CysfsTer? | |
| NM_001195803.1:c.1117_1118del | NP_001182732.1:p.Val373CysfsTer? | |
| XM_011528010.1:c.1498_1499del | XP_011526312.1:p.Val500CysfsTer? | |
| XM_011528011.1:c.1117_1118del | XP_011526313.1:p.Val373CysfsTer? | |
| XR_244074.2:n.1648_1649del | ||
| XM_011528010.2:c.1498_1499del | XP_011526312.1:p.Val500CysfsTer? | |
| XR_001753685.2:n.1615_1616del | ||
| XR_001753686.2:n.1615_1616del | ||
| NM_000527.5:c.1498_1499del MANE Select | NP_000518.1:p.Val500CysfsTer? | |
| NM_001195798.2:c.1498_1499del | NP_001182727.1:p.Val500CysfsTer? | |
| NM_001195799.2:c.1375_1376del | NP_001182728.1:p.Val459CysfsTer? | |
| NM_001195800.2:c.994_995del | NP_001182729.1:p.Val332CysfsTer? | |
| NM_001195803.2:c.1117_1118del | NP_001182732.1:p.Val373CysfsTer? |