Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010341_46010342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA , CM000682.2:g.46010341_46010342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA | GRCh38 |
| NC_000020.10:g.44638980_44638981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA , CM000682.1:g.44638980_44638981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA | GRCh37 |
| NC_000020.9:g.44072387_44072388insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA | NCBI36 |
| NG_011468.1:g.6434_6435insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA MANE Select | ENSP00000361405.3:n.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_004994.2:c.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA | NP_004985.2:n.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_004994.3:c.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA MANE Select | NP_004985.2:n.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA... |