Linked Data
ClinVar Variation Id:
252160
ClinVar RCV Id:
RCV000238332
dbSNP Id:
rs879255106
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120380del , CM000681.2:g.11120380del | GRCh38 |
| NC_000019.9:g.11231056del , CM000681.1:g.11231056del | GRCh37 |
| NC_000019.8:g.11092056del | NCBI36 |
| NG_009060.1:g.36000del , LRG_274:g.36000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2256del | ENSP00000252444.6:p.Trp752CysfsTer7 | |
| ENST00000559340.2:c.*67del | ENSP00000453696.2:n.*67del | |
| ENST00000560467.2:c.1878del | ENSP00000453513.2:p.Trp626CysfsTer7 | |
| ENST00000558518.6:c.1998del MANE Select | ENSP00000454071.1:p.Trp666CysfsTer7 | |
| ENST00000252444.9:c.2252del | ||
| ENST00000455727.6:c.1494del | ENSP00000397829.2:p.Trp498CysfsTer7 | |
| ENST00000535915.5:c.1875del | ENSP00000440520.1:p.Trp625CysfsTer7 | |
| ENST00000545707.5:c.1606+147del | ENSP00000437639.1:n.1606+147del | |
| ENST00000557933.5:c.1998del | ENSP00000453557.1:p.Trp666CysfsTer7 | |
| ENST00000558013.5:c.1998del | ENSP00000453346.1:p.Trp666CysfsTer7 | |
| ENST00000558518.5:c.1998del | ENSP00000454071.1:p.Trp666CysfsTer7 | |
| ENST00000559340.1:c.579del | ||
| NM_000527.4:c.1998del , LRG_274t1:c.1998del | NP_000518.1:p.Trp666CysfsTer7 | |
| NM_001195798.1:c.1998del | NP_001182727.1:p.Trp666CysfsTer7 | |
| NM_001195799.1:c.1875del | NP_001182728.1:p.Trp625CysfsTer7 | |
| NM_001195800.1:c.1494del | NP_001182729.1:p.Trp498CysfsTer7 | |
| NM_001195803.1:c.1606+147del | NP_001182732.1:n.1606+147del | |
| XM_011528010.1:c.1998del | XP_011526312.1:p.Trp666CysfsTer7 | |
| XM_011528011.1:c.1617del | XP_011526313.1:p.Trp539CysfsTer7 | |
| XR_244074.2:n.2008del | ||
| XM_011528010.2:c.1998del | XP_011526312.1:p.Trp666CysfsTer7 | |
| XR_001753685.2:n.2115del | ||
| XR_001753686.2:n.1975del | ||
| NM_000527.5:c.1998del MANE Select | NP_000518.1:p.Trp666CysfsTer7 | |
| NM_001195798.2:c.1998del | NP_001182727.1:p.Trp666CysfsTer7 | |
| NM_001195799.2:c.1875del | NP_001182728.1:p.Trp625CysfsTer7 | |
| NM_001195800.2:c.1494del | NP_001182729.1:p.Trp498CysfsTer7 | |
| NM_001195803.2:c.1606+147del | NP_001182732.1:n.1606+147del |