Linked Data
ClinVar Variation Id:
251491
ClinVar RCV Id:
RCV000238253
dbSNP Id:
rs879254696
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107439del , CM000681.2:g.11107439del | GRCh38 |
| NC_000019.9:g.11218115del , CM000681.1:g.11218115del | GRCh37 |
| NC_000019.8:g.11079115del | NCBI36 |
| NG_009060.1:g.23059del , LRG_274:g.23059del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1123del | ENSP00000252444.6:p.Cys375AlafsTer? | |
| ENST00000559340.2:c.865del | ENSP00000453696.2:p.Cys289AlafsTer? | |
| ENST00000560467.2:c.865del | ENSP00000453513.2:p.Cys289AlafsTer? | |
| ENST00000558518.6:c.865del MANE Select | ENSP00000454071.1:p.Cys289AlafsTer? | |
| ENST00000252444.9:c.1119del | ||
| ENST00000455727.6:c.361del | ENSP00000397829.2:p.Cys121AlafsTer? | |
| ENST00000535915.5:c.742del | ENSP00000440520.1:p.Cys248AlafsTer? | |
| ENST00000545707.5:c.484del | ENSP00000437639.1:p.Cys162AlafsTer? | |
| ENST00000557933.5:c.865del | ENSP00000453557.1:p.Cys289AlafsTer? | |
| ENST00000558013.5:c.865del | ENSP00000453346.1:p.Cys289AlafsTer? | |
| ENST00000558518.5:c.865del | ENSP00000454071.1:p.Cys289AlafsTer? | |
| ENST00000558528.1:n.380del | ||
| ENST00000560467.1:c.465del | ||
| NM_000527.4:c.865del , LRG_274t1:c.865del | NP_000518.1:p.Cys289AlafsTer? | |
| NM_001195798.1:c.865del | NP_001182727.1:p.Cys289AlafsTer? | |
| NM_001195799.1:c.742del | NP_001182728.1:p.Cys248AlafsTer? | |
| NM_001195800.1:c.361del | NP_001182729.1:p.Cys121AlafsTer? | |
| NM_001195803.1:c.484del | NP_001182732.1:p.Cys162AlafsTer? | |
| XM_011528010.1:c.865del | XP_011526312.1:p.Cys289AlafsTer? | |
| XM_011528011.1:c.484del | XP_011526313.1:p.Cys162AlafsTer? | |
| XR_244074.2:n.1015del | ||
| XM_011528010.2:c.865del | XP_011526312.1:p.Cys289AlafsTer? | |
| XR_001753685.2:n.982del | ||
| XR_001753686.2:n.982del | ||
| NM_000527.5:c.865del MANE Select | NP_000518.1:p.Cys289AlafsTer? | |
| NM_001195798.2:c.865del | NP_001182727.1:p.Cys289AlafsTer? | |
| NM_001195799.2:c.742del | NP_001182728.1:p.Cys248AlafsTer? | |
| NM_001195800.2:c.361del | NP_001182729.1:p.Cys121AlafsTer? | |
| NM_001195803.2:c.484del | NP_001182732.1:p.Cys162AlafsTer? |