Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144949_185144951del , CM000666.2:g.185144949_185144951del | GRCh38 |
| NC_000004.11:g.186066103_186066105del , CM000666.1:g.186066103_186066105del | GRCh37 |
| NC_000004.10:g.186303097_186303099del | NCBI36 |
| NG_013001.1:g.6687_6689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.297_299del MANE Select | ENSP00000281456.5:p.Phe99del | |
| ENST00000281456.10:c.297_299del | ENSP00000281456.5:p.Phe99del | |
| ENST00000491736.1:c.297_299del | ENSP00000476711.1:p.Phe99del | |
| NM_001151.3:c.297_299del | NP_001142.2:p.Phe99del | |
| NM_001151.4:c.297_299del MANE Select | NP_001142.2:p.Phe99del |