Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994622_148994661del , CM000667.2:g.148994622_148994661del | GRCh38 |
| NC_000005.9:g.148374185_148374224del , CM000667.1:g.148374185_148374224del | GRCh37 |
| NC_000005.8:g.148354378_148354417del | NCBI36 |
| NG_007947.2:g.73535_73574del , LRG_269:g.73535_73574del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10071_*10110del MANE Select | ENSP00000423660.1:n.*10071_*10110del | |
| ENST00000504690.5:c.*12+9086_*12+9125del | ENSP00000425627.1:n.*12+9086_*12+9125del | |
| ENST00000510350.1:n.231+12241_231+12280del | ||
| NM_024577.3:c.*10071_*10110del , LRG_269t1:c.*10071_*10110del | NP_078853.2:n.*10071_*10110del | |
| NM_024577.4:c.*10071_*10110del MANE Select | NP_078853.2:n.*10071_*10110del |