Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727644_82727656del , CM000679.2:g.82727644_82727656del | GRCh38 |
| NC_000017.10:g.80685520_80685532del , CM000679.1:g.80685520_80685532del | GRCh37 |
| NC_000017.9:g.78278809_78278821del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*473_*485del MANE Select | ENSP00000269373.6:n.*473_*485del | |
| ENST00000269373.10:c.*473_*485del | ENSP00000269373.6:n.*473_*485del | |
| ENST00000571594.1:c.53+477_53+489del | ENSP00000459751.1:n.53+477_53+489del | |
| NM_024619.3:c.*473_*485del | NP_078895.2:n.*473_*485del | |
| NR_046408.1:n.1581_1593del | ||
| XM_024450948.1:c.*473_*485del | XP_024306716.1:n.*473_*485del | |
| NM_024619.4:c.*473_*485del MANE Select | NP_078895.2:n.*473_*485del | |
| NR_046408.2:n.1581_1593del |