Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813558del , CM000671.2:g.129813558del | GRCh38 |
| NC_000009.11:g.132575837del , CM000671.1:g.132575837del | GRCh37 |
| NC_000009.10:g.131615658del | NCBI36 |
| NG_008049.1:g.15605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.*414del MANE Select | ENSP00000345719.4:n.*414del | |
| ENST00000651202.1:c.*681del | ENSP00000498222.1:n.*681del | |
| ENST00000351698.4:c.*414del | ENSP00000345719.4:n.*414del | |
| NM_000113.2:c.*414del | NP_000104.1:n.*414del | |
| XR_929731.3:n.1608del | ||
| NM_000113.3:c.*414del MANE Select | NP_000104.1:n.*414del |