Linked Data
ClinVar Variation Id:
251399
ClinVar RCV Id:
RCV000238398
dbSNP Id:
rs879254645
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105599_11105620del , CM000681.2:g.11105599_11105620del | GRCh38 |
| NC_000019.9:g.11216275_11216296del , CM000681.1:g.11216275_11216296del | GRCh37 |
| NC_000019.8:g.11077275_11077296del | NCBI36 |
| NG_009060.1:g.21219_21240del , LRG_274:g.21219_21240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.951_952+20del | ||
| ENST00000559340.2:c.693_694+20del | ||
| ENST00000560467.2:c.693_694+20del | ||
| ENST00000558518.6:c.693_694+20del | ||
| ENST00000252444.9:c.947_948+20del | ||
| ENST00000455727.6:c.314-1793_314-1772del | ENSP00000397829.2:n.314-1793_314-1772del | |
| ENST00000535915.5:c.570_571+20del | ||
| ENST00000545707.5:c.314-966_314-945del | ENSP00000437639.1:n.314-966_314-945del | |
| ENST00000557933.5:c.693_694+20del | ||
| ENST00000558013.5:c.693_694+20del | ||
| ENST00000558518.5:c.693_694+20del | ||
| ENST00000560467.1:c.293_294+20del | ||
| NM_000527.4:c.693_694+20del , LRG_274t1:c.693_694+20del | ||
| NM_001195798.1:c.693_694+20del | ||
| NM_001195799.1:c.570_571+20del | ||
| NM_001195800.1:c.314-1793_314-1772del | NP_001182729.1:n.314-1793_314-1772del | |
| NM_001195803.1:c.314-966_314-945del | NP_001182732.1:n.314-966_314-945del | |
| XM_011528010.1:c.693_694+20del | ||
| XM_011528011.1:c.314-966_314-945del | XP_011526313.1:n.314-966_314-945del | |
| XR_244074.2:n.843_844+20del | ||
| XM_011528010.2:c.693_694+20del | ||
| XR_001753685.2:n.810_811+20del | ||
| XR_001753686.2:n.810_811+20del | ||
| NM_000527.5:c.693_694+20del | ||
| NM_001195798.2:c.693_694+20del | ||
| NM_001195799.2:c.570_571+20del | ||
| NM_001195800.2:c.314-1793_314-1772del | NP_001182729.1:n.314-1793_314-1772del | |
| NM_001195803.2:c.314-966_314-945del | NP_001182732.1:n.314-966_314-945del |