Linked Data
ClinVar Variation Id:
251411
ClinVar RCV Id:
RCV000238206
dbSNP Id:
rs879254651
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106559_11106568del , CM000681.2:g.11106559_11106568del | GRCh38 |
| NC_000019.9:g.11217235_11217244del , CM000681.1:g.11217235_11217244del | GRCh37 |
| NC_000019.8:g.11078235_11078244del | NCBI36 |
| NG_009060.1:g.22179_22188del , LRG_274:g.22179_22188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.953-6_956del | ||
| ENST00000559340.2:c.695-6_698del | ||
| ENST00000560467.2:c.695-6_698del | ||
| ENST00000558518.6:c.695-6_698del | ||
| ENST00000252444.9:c.949-6_952del | ||
| ENST00000455727.6:c.314-833_314-824del | ENSP00000397829.2:n.314-833_314-824del | |
| ENST00000535915.5:c.572-6_575del | ||
| ENST00000545707.5:c.314-6_317del | ||
| ENST00000557933.5:c.695-6_698del | ||
| ENST00000558013.5:c.695-6_698del | ||
| ENST00000558518.5:c.695-6_698del | ||
| ENST00000558528.1:n.204_213del | ||
| ENST00000560467.1:c.295-6_298del | ||
| NM_000527.4:c.695-6_698del , LRG_274t1:c.695-6_698del | ||
| NM_001195798.1:c.695-6_698del | ||
| NM_001195799.1:c.572-6_575del | ||
| NM_001195800.1:c.314-833_314-824del | NP_001182729.1:n.314-833_314-824del | |
| NM_001195803.1:c.314-6_317del | ||
| XM_011528010.1:c.695-6_698del | ||
| XM_011528011.1:c.314-6_317del | ||
| XR_244074.2:n.845-6_848del | ||
| XM_011528010.2:c.695-6_698del | ||
| XR_001753685.2:n.812-6_815del | ||
| XR_001753686.2:n.812-6_815del | ||
| NM_000527.5:c.695-6_698del | ||
| NM_001195798.2:c.695-6_698del | ||
| NM_001195799.2:c.572-6_575del | ||
| NM_001195800.2:c.314-833_314-824del | NP_001182729.1:n.314-833_314-824del | |
| NM_001195803.2:c.314-6_317del |