Linked Data
ClinVar Variation Id:
251282
ClinVar RCV Id:
RCV000237314
dbSNP Id:
rs879254564
PubMed:
PMID:20019594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105438_11105439insT , CM000681.2:g.11105438_11105439insT | GRCh38 |
| NC_000019.9:g.11216114_11216115insT , CM000681.1:g.11216114_11216115insT | GRCh37 |
| NC_000019.8:g.11077114_11077115insT | NCBI36 |
| NG_009060.1:g.21058_21059insT , LRG_274:g.21058_21059insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.790_791insT | ENSP00000252444.6:p.Asp264ValfsTer2 | |
| ENST00000559340.2:c.532_533insT | ENSP00000453696.2:p.Asp178ValfsTer2 | |
| ENST00000560467.2:c.532_533insT | ENSP00000453513.2:p.Asp178ValfsTer2 | |
| ENST00000558518.6:c.532_533insT MANE Select | ENSP00000454071.1:p.Asp178ValfsTer2 | |
| ENST00000252444.9:c.786_787insT | ||
| ENST00000455727.6:c.314-1954_314-1953insT | ENSP00000397829.2:n.314-1954_314-1953insT | |
| ENST00000535915.5:c.409_410insT | ENSP00000440520.1:p.Asp137ValfsTer2 | |
| ENST00000545707.5:c.314-1127_314-1126insT | ENSP00000437639.1:n.314-1127_314-1126insT | |
| ENST00000557933.5:c.532_533insT | ENSP00000453557.1:p.Asp178ValfsTer2 | |
| ENST00000558013.5:c.532_533insT | ENSP00000453346.1:p.Asp178ValfsTer2 | |
| ENST00000558518.5:c.532_533insT | ENSP00000454071.1:p.Asp178ValfsTer2 | |
| ENST00000560467.1:c.132_133insT | ||
| NM_000527.4:c.532_533insT , LRG_274t1:c.532_533insT | NP_000518.1:p.Asp178ValfsTer2 | |
| NM_001195798.1:c.532_533insT | NP_001182727.1:p.Asp178ValfsTer2 | |
| NM_001195799.1:c.409_410insT | NP_001182728.1:p.Asp137ValfsTer2 | |
| NM_001195800.1:c.314-1954_314-1953insT | NP_001182729.1:n.314-1954_314-1953insT | |
| NM_001195803.1:c.314-1127_314-1126insT | NP_001182732.1:n.314-1127_314-1126insT | |
| XM_011528010.1:c.532_533insT | XP_011526312.1:p.Asp178ValfsTer2 | |
| XM_011528011.1:c.314-1127_314-1126insT | XP_011526313.1:n.314-1127_314-1126insT | |
| XR_244074.2:n.682_683insT | ||
| XM_011528010.2:c.532_533insT | XP_011526312.1:p.Asp178ValfsTer2 | |
| XR_001753685.2:n.649_650insT | ||
| XR_001753686.2:n.649_650insT | ||
| NM_000527.5:c.532_533insT MANE Select | NP_000518.1:p.Asp178ValfsTer2 | |
| NM_001195798.2:c.532_533insT | NP_001182727.1:p.Asp178ValfsTer2 | |
| NM_001195799.2:c.409_410insT | NP_001182728.1:p.Asp137ValfsTer2 | |
| NM_001195800.2:c.314-1954_314-1953insT | NP_001182729.1:n.314-1954_314-1953insT | |
| NM_001195803.2:c.314-1127_314-1126insT | NP_001182732.1:n.314-1127_314-1126insT |