Linked Data
ClinVar Variation Id:
251305
ClinVar RCV Id:
RCV000238060
dbSNP Id:
rs879254581
PubMed:
PMID:20019594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105487_11105488insA , CM000681.2:g.11105487_11105488insA | GRCh38 |
| NC_000019.9:g.11216163_11216164insA , CM000681.1:g.11216163_11216164insA | GRCh37 |
| NC_000019.8:g.11077163_11077164insA | NCBI36 |
| NG_009060.1:g.21107_21108insA , LRG_274:g.21107_21108insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.839_840insA | ENSP00000252444.6:p.Ser280ArgfsTer2 | |
| ENST00000559340.2:c.581_582insA | ENSP00000453696.2:p.Ser194ArgfsTer2 | |
| ENST00000560467.2:c.581_582insA | ENSP00000453513.2:p.Ser194ArgfsTer2 | |
| ENST00000558518.6:c.581_582insA MANE Select | ENSP00000454071.1:p.Ser194ArgfsTer2 | |
| ENST00000252444.9:c.835_836insA | ||
| ENST00000455727.6:c.314-1905_314-1904insA | ENSP00000397829.2:n.314-1905_314-1904insA | |
| ENST00000535915.5:c.458_459insA | ENSP00000440520.1:p.Ser153ArgfsTer2 | |
| ENST00000545707.5:c.314-1078_314-1077insA | ENSP00000437639.1:n.314-1078_314-1077insA | |
| ENST00000557933.5:c.581_582insA | ENSP00000453557.1:p.Ser194ArgfsTer2 | |
| ENST00000558013.5:c.581_582insA | ENSP00000453346.1:p.Ser194ArgfsTer2 | |
| ENST00000558518.5:c.581_582insA | ENSP00000454071.1:p.Ser194ArgfsTer2 | |
| ENST00000560467.1:c.181_182insA | ||
| NM_000527.4:c.581_582insA , LRG_274t1:c.581_582insA | NP_000518.1:p.Ser194ArgfsTer2 | |
| NM_001195798.1:c.581_582insA | NP_001182727.1:p.Ser194ArgfsTer2 | |
| NM_001195799.1:c.458_459insA | NP_001182728.1:p.Ser153ArgfsTer2 | |
| NM_001195800.1:c.314-1905_314-1904insA | NP_001182729.1:n.314-1905_314-1904insA | |
| NM_001195803.1:c.314-1078_314-1077insA | NP_001182732.1:n.314-1078_314-1077insA | |
| XM_011528010.1:c.581_582insA | XP_011526312.1:p.Ser194ArgfsTer2 | |
| XM_011528011.1:c.314-1078_314-1077insA | XP_011526313.1:n.314-1078_314-1077insA | |
| XR_244074.2:n.731_732insA | ||
| XM_011528010.2:c.581_582insA | XP_011526312.1:p.Ser194ArgfsTer2 | |
| XR_001753685.2:n.698_699insA | ||
| XR_001753686.2:n.698_699insA | ||
| NM_000527.5:c.581_582insA MANE Select | NP_000518.1:p.Ser194ArgfsTer2 | |
| NM_001195798.2:c.581_582insA | NP_001182727.1:p.Ser194ArgfsTer2 | |
| NM_001195799.2:c.458_459insA | NP_001182728.1:p.Ser153ArgfsTer2 | |
| NM_001195800.2:c.314-1905_314-1904insA | NP_001182729.1:n.314-1905_314-1904insA | |
| NM_001195803.2:c.314-1078_314-1077insA | NP_001182732.1:n.314-1078_314-1077insA |