Linked Data
ClinVar Variation Id:
252164
ClinVar RCV Id:
RCV000237349
dbSNP Id:
rs879255107
PubMed:
PMID:25846081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120382del , CM000681.2:g.11120382del | GRCh38 |
| NC_000019.9:g.11231058del , CM000681.1:g.11231058del | GRCh37 |
| NC_000019.8:g.11092058del | NCBI36 |
| NG_009060.1:g.36002del , LRG_274:g.36002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2258del | ENSP00000252444.6:p.Cys753LeufsTer6 | |
| ENST00000559340.2:c.*69del | ENSP00000453696.2:n.*69del | |
| ENST00000560467.2:c.1880del | ENSP00000453513.2:p.Cys627LeufsTer6 | |
| ENST00000558518.6:c.2000del MANE Select | ENSP00000454071.1:p.Cys667LeufsTer6 | |
| ENST00000252444.9:c.2254del | ||
| ENST00000455727.6:c.1496del | ENSP00000397829.2:p.Cys499LeufsTer6 | |
| ENST00000535915.5:c.1877del | ENSP00000440520.1:p.Cys626LeufsTer6 | |
| ENST00000545707.5:c.1606+149del | ENSP00000437639.1:n.1606+149del | |
| ENST00000557933.5:c.2000del | ENSP00000453557.1:p.Cys667LeufsTer6 | |
| ENST00000558013.5:c.2000del | ENSP00000453346.1:p.Cys667LeufsTer6 | |
| ENST00000558518.5:c.2000del | ENSP00000454071.1:p.Cys667LeufsTer6 | |
| ENST00000559340.1:c.581del | ||
| NM_000527.4:c.2000del , LRG_274t1:c.2000del | NP_000518.1:p.Cys667LeufsTer6 | |
| NM_001195798.1:c.2000del | NP_001182727.1:p.Cys667LeufsTer6 | |
| NM_001195799.1:c.1877del | NP_001182728.1:p.Cys626LeufsTer6 | |
| NM_001195800.1:c.1496del | NP_001182729.1:p.Cys499LeufsTer6 | |
| NM_001195803.1:c.1606+149del | NP_001182732.1:n.1606+149del | |
| XM_011528010.1:c.2000del | XP_011526312.1:p.Cys667LeufsTer6 | |
| XM_011528011.1:c.1619del | XP_011526313.1:p.Cys540LeufsTer6 | |
| XR_244074.2:n.2010del | ||
| XM_011528010.2:c.2000del | XP_011526312.1:p.Cys667LeufsTer6 | |
| XR_001753685.2:n.2117del | ||
| XR_001753686.2:n.1977del | ||
| NM_000527.5:c.2000del MANE Select | NP_000518.1:p.Cys667LeufsTer6 | |
| NM_001195798.2:c.2000del | NP_001182727.1:p.Cys667LeufsTer6 | |
| NM_001195799.2:c.1877del | NP_001182728.1:p.Cys626LeufsTer6 | |
| NM_001195800.2:c.1496del | NP_001182729.1:p.Cys499LeufsTer6 | |
| NM_001195803.2:c.1606+149del | NP_001182732.1:n.1606+149del |