Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178995029_178995071del , CM000667.2:g.178995029_178995071del | GRCh38 |
| NC_000005.9:g.178422030_178422072del , CM000667.1:g.178422030_178422072del | GRCh37 |
| NC_000005.8:g.178354636_178354678del | NCBI36 |
| NG_008105.1:g.5065_5107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.-16-99_-16-57del MANE Select | ENSP00000430767.1:n.-16-99_-16-57del | |
| ENST00000650031.1:c.-16-99_-16-57del | ENSP00000497110.1:n.-16-99_-16-57del | |
| ENST00000231188.9:c.-115_-73del | ENSP00000231188.5:n.-115_-73del | |
| ENST00000517717.1:c.-16-99_-16-57del | ENSP00000430767.1:n.-16-99_-16-57del | |
| NM_000843.3:c.-115_-73del | NP_000834.2:n.-115_-73del | |
| NM_000843.4:c.-16-99_-16-57del MANE Select | NP_000834.2:n.-16-99_-16-57del |