Linked Data
ClinVar Variation Id:
252248
ClinVar RCV Id:
RCV000237725
dbSNP Id:
rs879255156
PubMed:
PMID:16250003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123211del , CM000681.2:g.11123211del | GRCh38 |
| NC_000019.9:g.11233887del , CM000681.1:g.11233887del | GRCh37 |
| NC_000019.8:g.11094887del | NCBI36 |
| NG_009060.1:g.38831del , LRG_274:g.38831del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2436del | ENSP00000252444.6:p.Val813SerfsTer3 | |
| ENST00000559340.2:c.*247del | ENSP00000453696.2:n.*247del | |
| ENST00000560467.2:c.2058del | ENSP00000453513.2:p.Val687SerfsTer3 | |
| ENST00000558518.6:c.2178del MANE Select | ENSP00000454071.1:p.Val727SerfsTer3 | |
| ENST00000252444.9:c.2432del | ||
| ENST00000455727.6:c.1674del | ENSP00000397829.2:p.Val559SerfsTer3 | |
| ENST00000535915.5:c.2055del | ENSP00000440520.1:p.Val686SerfsTer3 | |
| ENST00000545707.5:c.1644del | ENSP00000437639.1:p.Val549SerfsTer3 | |
| ENST00000557933.5:c.2178del | ENSP00000453557.1:p.Val727SerfsTer3 | |
| ENST00000558013.5:c.2178del | ENSP00000453346.1:p.Val727SerfsTer3 | |
| ENST00000558518.5:c.2178del | ENSP00000454071.1:p.Val727SerfsTer3 | |
| NM_000527.4:c.2178del , LRG_274t1:c.2178del | NP_000518.1:p.Val727SerfsTer3 | |
| NM_001195798.1:c.2178del | NP_001182727.1:p.Val727SerfsTer3 | |
| NM_001195799.1:c.2055del | NP_001182728.1:p.Val686SerfsTer3 | |
| NM_001195800.1:c.1674del | NP_001182729.1:p.Val559SerfsTer3 | |
| NM_001195803.1:c.1644del | NP_001182732.1:p.Val549SerfsTer3 | |
| XM_011528010.1:c.2178del | XP_011526312.1:p.Val727SerfsTer3 | |
| XM_011528011.1:c.1797del | XP_011526313.1:p.Val600SerfsTer3 | |
| XR_244074.2:n.2188del | ||
| XM_011528010.2:c.2178del | XP_011526312.1:p.Val727SerfsTer3 | |
| XR_001753685.2:n.2512del | ||
| XR_001753686.2:n.2155del | ||
| NM_000527.5:c.2178del MANE Select | NP_000518.1:p.Val727SerfsTer3 | |
| NM_001195798.2:c.2178del | NP_001182727.1:p.Val727SerfsTer3 | |
| NM_001195799.2:c.2055del | NP_001182728.1:p.Val686SerfsTer3 | |
| NM_001195800.2:c.1674del | NP_001182729.1:p.Val559SerfsTer3 | |
| NM_001195803.2:c.1644del | NP_001182732.1:p.Val549SerfsTer3 |