Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911437_42911438insA , CM000679.2:g.42911437_42911438insA | GRCh38 |
| NC_000017.10:g.41063454_41063455insA , CM000679.1:g.41063454_41063455insA | GRCh37 |
| NC_000017.9:g.38316980_38316981insA | NCBI36 |
| NG_011808.1:g.15640_15641insA , LRG_147:g.15640_15641insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.*11_*12insA MANE Select | ENSP00000253801.1:n.*11_*12insA | |
| ENST00000253801.6:c.*11_*12insA | ENSP00000253801.1:n.*11_*12insA | |
| ENST00000585489.1:c.*477_*478insA | ENSP00000466202.1:n.*477_*478insA | |
| NM_000151.3:c.*11_*12insA | NP_000142.2:n.*11_*12insA | |
| NM_001270397.1:c.*477_*478insA | NP_001257326.1:n.*477_*478insA | |
| NM_000151.4:c.*11_*12insA MANE Select | NP_000142.2:n.*11_*12insA | |
| NM_001270397.2:c.*477_*478insA | NP_001257326.1:n.*477_*478insA |