Linked Data
ClinVar Variation Id:
252348
ClinVar RCV Id:
RCV000238069
dbSNP Id:
rs879255221
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129632del , CM000681.2:g.11129632del | GRCh38 |
| NC_000019.9:g.11240308del , CM000681.1:g.11240308del | GRCh37 |
| NC_000019.8:g.11101308del | NCBI36 |
| NG_009060.1:g.45252del , LRG_274:g.45252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2767del | ENSP00000252444.6:p.His923ThrfsTer? | |
| ENST00000559340.2:c.*578del | ENSP00000453696.2:n.*578del | |
| ENST00000560467.2:c.2389del | ENSP00000453513.2:p.His797ThrfsTer? | |
| ENST00000558518.6:c.2509del MANE Select | ENSP00000454071.1:p.His837ThrfsTer? | |
| ENST00000252444.9:c.2763del | ||
| ENST00000455727.6:c.2005del | ENSP00000397829.2:p.His669ThrfsTer? | |
| ENST00000535915.5:c.2386del | ENSP00000440520.1:p.His796ThrfsTer? | |
| ENST00000545707.5:c.1975del | ENSP00000437639.1:p.His659ThrfsTer? | |
| ENST00000557933.5:c.2571del | ENSP00000453557.1:p.Thr858HisfsTer21 | |
| ENST00000558013.5:c.2509del | ENSP00000453346.1:p.His837ThrfsTer? | |
| ENST00000558518.5:c.2509del | ENSP00000454071.1:p.His837ThrfsTer? | |
| ENST00000560628.1:n.108+1978del | ||
| NM_000527.4:c.2509del , LRG_274t1:c.2509del | NP_000518.1:p.His837ThrfsTer? | |
| NM_001195798.1:c.2509del | NP_001182727.1:p.His837ThrfsTer? | |
| NM_001195799.1:c.2386del | NP_001182728.1:p.His796ThrfsTer? | |
| NM_001195800.1:c.2005del | NP_001182729.1:p.His669ThrfsTer? | |
| NM_001195803.1:c.1975del | NP_001182732.1:p.His659ThrfsTer? | |
| XM_011528010.1:c.2431del | XP_011526312.1:p.His811ThrfsTer? | |
| XM_011528011.1:c.2128del | XP_011526313.1:p.His710ThrfsTer? | |
| XM_011528010.2:c.2431del | XP_011526312.1:p.His811ThrfsTer? | |
| XR_001753685.2:n.2843del | ||
| XR_001753686.2:n.2486del | ||
| NM_000527.5:c.2509del MANE Select | NP_000518.1:p.His837ThrfsTer? | |
| NM_001195798.2:c.2509del | NP_001182727.1:p.His837ThrfsTer? | |
| NM_001195799.2:c.2386del | NP_001182728.1:p.His796ThrfsTer? | |
| NM_001195800.2:c.2005del | NP_001182729.1:p.His669ThrfsTer? | |
| NM_001195803.2:c.1975del | NP_001182732.1:p.His659ThrfsTer? |