Linked Data
ClinVar Variation Id:
252081
ClinVar RCV Id:
RCV000237571
dbSNP Id:
rs879255052
PubMed:
PMID:20538126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120099_11120110del , CM000681.2:g.11120099_11120110del | GRCh38 |
| NC_000019.9:g.11230775_11230786del , CM000681.1:g.11230775_11230786del | GRCh37 |
| NC_000019.8:g.11091775_11091786del | NCBI36 |
| NG_009060.1:g.35719_35730del , LRG_274:g.35719_35730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2111_2122del | ENSP00000252444.6:p.Val704_Thr707del | |
| ENST00000559340.2:c.1713_1724del | ENSP00000453696.2:p.Ser571_Asp574del | |
| ENST00000560467.2:c.1733_1744del | ENSP00000453513.2:p.Val578_Thr581del | |
| ENST00000558518.6:c.1853_1864del MANE Select | ENSP00000454071.1:p.Val618_Thr621del | |
| ENST00000252444.9:c.2107_2118del | ||
| ENST00000455727.6:c.1349_1360del | ENSP00000397829.2:p.Val450_Thr453del | |
| ENST00000535915.5:c.1730_1741del | ENSP00000440520.1:p.Val577_Thr580del | |
| ENST00000545707.5:c.1472_1483del | ENSP00000437639.1:p.Val491_Thr494del | |
| ENST00000557933.5:c.1853_1864del | ENSP00000453557.1:p.Val618_Thr621del | |
| ENST00000558013.5:c.1853_1864del | ENSP00000453346.1:p.Val618_Thr621del | |
| ENST00000558518.5:c.1853_1864del | ENSP00000454071.1:p.Val618_Thr621del | |
| ENST00000559340.1:c.434_445del | ||
| NM_000527.4:c.1853_1864del , LRG_274t1:c.1853_1864del | NP_000518.1:p.Val618_Thr621del | |
| NM_001195798.1:c.1853_1864del | NP_001182727.1:p.Val618_Thr621del | |
| NM_001195799.1:c.1730_1741del | NP_001182728.1:p.Val577_Thr580del | |
| NM_001195800.1:c.1349_1360del | NP_001182729.1:p.Val450_Thr453del | |
| NM_001195803.1:c.1472_1483del | NP_001182732.1:p.Val491_Thr494del | |
| XM_011528010.1:c.1853_1864del | XP_011526312.1:p.Val618_Thr621del | |
| XM_011528011.1:c.1472_1483del | XP_011526313.1:p.Val491_Thr494del | |
| XR_244074.2:n.1863_1874del | ||
| XM_011528010.2:c.1853_1864del | XP_011526312.1:p.Val618_Thr621del | |
| XR_001753685.2:n.1970_1981del | ||
| XR_001753686.2:n.1830_1841del | ||
| NM_000527.5:c.1853_1864del MANE Select | NP_000518.1:p.Val618_Thr621del | |
| NM_001195798.2:c.1853_1864del | NP_001182727.1:p.Val618_Thr621del | |
| NM_001195799.2:c.1730_1741del | NP_001182728.1:p.Val577_Thr580del | |
| NM_001195800.2:c.1349_1360del | NP_001182729.1:p.Val450_Thr453del | |
| NM_001195803.2:c.1472_1483del | NP_001182732.1:p.Val491_Thr494del |