Linked Data
ClinVar Variation Id:
235838
ClinVar RCV Id:
RCV000223972
dbSNP Id:
rs878853135
PubMed:
PMID:24726473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10671578del , CM000680.2:g.10671578del | GRCh38 |
| NC_000018.9:g.10671575del , CM000680.1:g.10671575del | GRCh37 |
| NC_000018.8:g.10661575del | NCBI36 |
| NG_034005.1:g.482185del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.*1649del | ENSP00000372900.4:n.*1649del | |
| ENST00000685517.1:n.3290del | ||
| ENST00000691469.1:n.2445del | ||
| ENST00000693743.1:c.1743del | ENSP00000510331.1:n.1743del | |
| ENST00000674853.1:c.8547del MANE Select | ENSP00000501957.1:p.Tyr2850IlefsTer7 | |
| ENST00000302079.10:c.8019del | ENSP00000303316.6:p.Tyr2674IlefsTer7 | |
| ENST00000383408.6:c.8061del | ENSP00000372900.3:p.Tyr2688IlefsTer7 | |
| ENST00000503781.7:c.8208del | ENSP00000421377.3:p.Tyr2737IlefsTer7 | |
| ENST00000538948.5:c.2079del | ENSP00000443129.1:p.Tyr694IlefsTer7 | |
| ENST00000580640.5:c.8283del | ENSP00000463094.1:p.Tyr2762IlefsTer7 | |
| ENST00000582913.5:c.8414del | ENSP00000462115.1:n.8414del | |
| ENST00000582937.1:c.58+1112del | ENSP00000462187.1:n.58+1112del | |
| NM_022068.3:c.8208del | NP_071351.2:p.Tyr2737IlefsTer7 | |
| XM_011525723.1:c.8340del | XP_011524025.1:p.Tyr2781IlefsTer7 | |
| XM_011525724.1:c.8283del | XP_011524026.1:p.Tyr2762IlefsTer7 | |
| XM_011525725.1:c.8250del | XP_011524027.1:p.Tyr2751IlefsTer7 | |
| XM_011525726.1:c.8157del | XP_011524028.1:p.Tyr2720IlefsTer7 | |
| XM_011525723.3:c.8340del | XP_011524025.1:p.Tyr2781IlefsTer7 | |
| XM_011525724.3:c.8283del | XP_011524026.1:p.Tyr2762IlefsTer7 | |
| XM_011525725.3:c.8250del | XP_011524027.1:p.Tyr2751IlefsTer7 | |
| XM_011525726.3:c.8157del | XP_011524028.1:p.Tyr2720IlefsTer7 | |
| XM_017025918.2:c.8301del | XP_016881407.1:p.Tyr2768IlefsTer7 | |
| NM_001378183.1:c.8547del MANE Select | NP_001365112.1:p.Tyr2850IlefsTer7 | |
| NM_022068.4:c.8208del | NP_071351.2:p.Tyr2737IlefsTer7 |