Linked Data
ClinVar Variation Id:
252297
ClinVar RCV Id:
RCV000238058
dbSNP Id:
rs879255185
PubMed:
PMID:20828696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128081del , CM000681.2:g.11128081del | GRCh38 |
| NC_000019.9:g.11238757del , CM000681.1:g.11238757del | GRCh37 |
| NC_000019.8:g.11099757del | NCBI36 |
| NG_009060.1:g.43701del , LRG_274:g.43701del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2643del | ENSP00000252444.6:p.Ile882SerfsTer? | |
| ENST00000559340.2:c.*454del | ENSP00000453696.2:n.*454del | |
| ENST00000560467.2:c.2265del | ENSP00000453513.2:p.Ile756SerfsTer? | |
| ENST00000558518.6:c.2385del MANE Select | ENSP00000454071.1:p.Ile796SerfsTer? | |
| ENST00000252444.9:c.2639del | ||
| ENST00000455727.6:c.1881del | ENSP00000397829.2:p.Ile628SerfsTer? | |
| ENST00000535915.5:c.2262del | ENSP00000440520.1:p.Ile755SerfsTer? | |
| ENST00000545707.5:c.1851del | ENSP00000437639.1:p.Ile618SerfsTer? | |
| ENST00000557933.5:c.2385del | ENSP00000453557.1:p.Ile796SerfsTer? | |
| ENST00000558013.5:c.2385del | ENSP00000453346.1:p.Ile796SerfsTer? | |
| ENST00000558518.5:c.2385del | ENSP00000454071.1:p.Ile796SerfsTer? | |
| ENST00000560628.1:n.108+427del | ||
| NM_000527.4:c.2385del , LRG_274t1:c.2385del | NP_000518.1:p.Ile796SerfsTer? | |
| NM_001195798.1:c.2385del | NP_001182727.1:p.Ile796SerfsTer? | |
| NM_001195799.1:c.2262del | NP_001182728.1:p.Ile755SerfsTer? | |
| NM_001195800.1:c.1881del | NP_001182729.1:p.Ile628SerfsTer? | |
| NM_001195803.1:c.1851del | NP_001182732.1:p.Ile618SerfsTer? | |
| XM_011528010.1:c.2312-1432del | XP_011526312.1:n.2312-1432del | |
| XM_011528011.1:c.2004del | XP_011526313.1:p.Ile669SerfsTer? | |
| XR_244074.2:n.2395del | ||
| XM_011528010.2:c.2312-1432del | XP_011526312.1:n.2312-1432del | |
| XR_001753685.2:n.2719del | ||
| XR_001753686.2:n.2362del | ||
| NM_000527.5:c.2385del MANE Select | NP_000518.1:p.Ile796SerfsTer? | |
| NM_001195798.2:c.2385del | NP_001182727.1:p.Ile796SerfsTer? | |
| NM_001195799.2:c.2262del | NP_001182728.1:p.Ile755SerfsTer? | |
| NM_001195800.2:c.1881del | NP_001182729.1:p.Ile628SerfsTer? | |
| NM_001195803.2:c.1851del | NP_001182732.1:p.Ile618SerfsTer? |