Linked Data
ClinVar Variation Id:
252349
ClinVar RCV Id:
RCV000237485
dbSNP Id:
rs879255222
PubMed:
PMID:19318025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129667dup , CM000681.2:g.11129667dup | GRCh38 |
| NC_000019.9:g.11240343dup , CM000681.1:g.11240343dup | GRCh37 |
| NC_000019.8:g.11101343dup | NCBI36 |
| NG_009060.1:g.45287dup , LRG_274:g.45287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2802dup | ENSP00000252444.6:p.Ser935LeufsTer10 | |
| ENST00000559340.2:c.*613dup | ENSP00000453696.2:n.*613dup | |
| ENST00000560467.2:c.2424dup | ENSP00000453513.2:p.Ser809LeufsTer10 | |
| ENST00000558518.6:c.2544dup MANE Select | ENSP00000454071.1:p.Ser849LeufsTer10 | |
| ENST00000252444.9:c.2798dup | ||
| ENST00000455727.6:c.2040dup | ENSP00000397829.2:p.Ser681LeufsTer10 | |
| ENST00000535915.5:c.2421dup | ENSP00000440520.1:p.Ser808LeufsTer10 | |
| ENST00000545707.5:c.2010dup | ENSP00000437639.1:p.Ser671LeufsTer10 | |
| ENST00000557933.5:c.2606dup | ENSP00000453557.1:p.Arg870SerfsTer13 | |
| ENST00000558013.5:c.2544dup | ENSP00000453346.1:p.Ser849LeufsTer8 | |
| ENST00000558518.5:c.2544dup | ENSP00000454071.1:p.Ser849LeufsTer10 | |
| ENST00000560628.1:n.108+2013dup | ||
| NM_000527.4:c.2544dup , LRG_274t1:c.2544dup | NP_000518.1:p.Ser849LeufsTer10 | |
| NM_001195798.1:c.2544dup | NP_001182727.1:p.Ser849LeufsTer8 | |
| NM_001195799.1:c.2421dup | NP_001182728.1:p.Ser808LeufsTer10 | |
| NM_001195800.1:c.2040dup | NP_001182729.1:p.Ser681LeufsTer10 | |
| NM_001195803.1:c.2010dup | NP_001182732.1:p.Ser671LeufsTer10 | |
| XM_011528010.1:c.2466dup | XP_011526312.1:p.Ser823LeufsTer10 | |
| XM_011528011.1:c.2163dup | XP_011526313.1:p.Ser722LeufsTer10 | |
| XM_011528010.2:c.2466dup | XP_011526312.1:p.Ser823LeufsTer10 | |
| XR_001753685.2:n.2878dup | ||
| XR_001753686.2:n.2521dup | ||
| NM_000527.5:c.2544dup MANE Select | NP_000518.1:p.Ser849LeufsTer10 | |
| NM_001195798.2:c.2544dup | NP_001182727.1:p.Ser849LeufsTer8 | |
| NM_001195799.2:c.2421dup | NP_001182728.1:p.Ser808LeufsTer10 | |
| NM_001195800.2:c.2040dup | NP_001182729.1:p.Ser681LeufsTer10 | |
| NM_001195803.2:c.2010dup | NP_001182732.1:p.Ser671LeufsTer10 |