Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750178_74750180del , CM000677.2:g.74750178_74750180del | GRCh38 |
| NC_000015.9:g.75042519_75042521del , CM000677.1:g.75042519_75042521del | GRCh37 |
| NC_000015.8:g.72829572_72829574del | NCBI36 |
| NG_008431.1:g.32637_32639del | |
| NG_008431.2:g.32637_32639del | |
| NG_061543.1:g.6334_6336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.440_442del MANE Select | ENSP00000342007.4:p.Phe147del | |
| ENST00000343932.4:c.440_442del | ENSP00000342007.4:p.Phe147del | |
| NM_000761.4:c.440_442del | NP_000752.2:p.Phe147del | |
| NM_000761.5:c.440_442del MANE Select | NP_000752.2:p.Phe147del |