Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508925_83508930del , CM000685.2:g.83508925_83508930del | GRCh38 |
| NC_000023.10:g.82763933_82763938del , CM000685.1:g.82763933_82763938del | GRCh37 |
| NC_000023.9:g.82650589_82650594del | NCBI36 |
| NG_009936.2:g.5665_5670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.601_606del MANE Select | ENSP00000495996.1:p.Phe201_Lys202del | |
| ENST00000373200.4:c.601_606del | ENSP00000362296.2:p.Phe201_Lys202del | |
| NM_000307.4:c.601_606del | NP_000298.3:p.Phe201_Lys202del | |
| NM_000307.5:c.601_606del MANE Select | NP_000298.3:p.Phe201_Lys202del |