Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992908del , CM000670.2:g.16992908del | GRCh38 |
| NC_000008.10:g.16850417del , CM000670.1:g.16850417del | GRCh37 |
| NC_000008.9:g.16894788del | NCBI36 |
| NG_015978.1:g.14261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*167del MANE Select | ENSP00000180166.5:n.*167del | |
| ENST00000180166.5:c.*167del | ENSP00000180166.5:n.*167del | |
| NM_019851.2:c.*167del | NP_062825.1:n.*167del | |
| NM_019851.3:c.*167del MANE Select | NP_062825.1:n.*167del |