Linked Data
ClinVar Variation Id:
251165
ClinVar RCV Id:
RCV000237238
dbSNP Id:
rs879254484
PubMed:
PMID:22698793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105253_11105273del , CM000681.2:g.11105253_11105273del | GRCh38 |
| NC_000019.9:g.11215929_11215949del , CM000681.1:g.11215929_11215949del | GRCh37 |
| NC_000019.8:g.11076929_11076949del | NCBI36 |
| NG_009060.1:g.20873_20893del , LRG_274:g.20873_20893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.605_625del | ENSP00000252444.6:p.Cys202_Ile208del | |
| ENST00000559340.2:c.347_367del | ENSP00000453696.2:p.Cys116_Ile122del | |
| ENST00000560467.2:c.347_367del | ENSP00000453513.2:p.Cys116_Ile122del | |
| ENST00000558518.6:c.347_367del MANE Select | ENSP00000454071.1:p.Cys116_Ile122del | |
| ENST00000252444.9:c.601_621del | ||
| ENST00000455727.6:c.314-2139_314-2119del | ENSP00000397829.2:n.314-2139_314-2119del | |
| ENST00000535915.5:c.224_244del | ENSP00000440520.1:p.Cys75_Ile81del | |
| ENST00000545707.5:c.314-1312_314-1292del | ENSP00000437639.1:n.314-1312_314-1292del | |
| ENST00000557933.5:c.347_367del | ENSP00000453557.1:p.Cys116_Ile122del | |
| ENST00000558013.5:c.347_367del | ENSP00000453346.1:p.Cys116_Ile122del | |
| ENST00000558518.5:c.347_367del | ENSP00000454071.1:p.Cys116_Ile122del | |
| NM_000527.4:c.347_367del , LRG_274t1:c.347_367del | NP_000518.1:p.Cys116_Ile122del | |
| NM_001195798.1:c.347_367del | NP_001182727.1:p.Cys116_Ile122del | |
| NM_001195799.1:c.224_244del | NP_001182728.1:p.Cys75_Ile81del | |
| NM_001195800.1:c.314-2139_314-2119del | NP_001182729.1:n.314-2139_314-2119del | |
| NM_001195803.1:c.314-1312_314-1292del | NP_001182732.1:n.314-1312_314-1292del | |
| XM_011528010.1:c.347_367del | XP_011526312.1:p.Cys116_Ile122del | |
| XM_011528011.1:c.314-1312_314-1292del | XP_011526313.1:n.314-1312_314-1292del | |
| XR_244074.2:n.497_517del | ||
| XM_011528010.2:c.347_367del | XP_011526312.1:p.Cys116_Ile122del | |
| XR_001753685.2:n.464_484del | ||
| XR_001753686.2:n.464_484del | ||
| NM_000527.5:c.347_367del MANE Select | NP_000518.1:p.Cys116_Ile122del | |
| NM_001195798.2:c.347_367del | NP_001182727.1:p.Cys116_Ile122del | |
| NM_001195799.2:c.224_244del | NP_001182728.1:p.Cys75_Ile81del | |
| NM_001195800.2:c.314-2139_314-2119del | NP_001182729.1:n.314-2139_314-2119del | |
| NM_001195803.2:c.314-1312_314-1292del | NP_001182732.1:n.314-1312_314-1292del |