Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911441del , CM000679.2:g.42911441del | GRCh38 |
| NC_000017.10:g.41063458del , CM000679.1:g.41063458del | GRCh37 |
| NC_000017.9:g.38316984del | NCBI36 |
| NG_011808.1:g.15644del , LRG_147:g.15644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.*15del MANE Select | ENSP00000253801.1:n.*15del | |
| ENST00000253801.6:c.*15del | ENSP00000253801.1:n.*15del | |
| ENST00000585489.1:c.*481del | ENSP00000466202.1:n.*481del | |
| NM_000151.3:c.*15del | NP_000142.2:n.*15del | |
| NM_001270397.1:c.*481del | NP_001257326.1:n.*481del | |
| NM_000151.4:c.*15del MANE Select | NP_000142.2:n.*15del | |
| NM_001270397.2:c.*481del | NP_001257326.1:n.*481del |