Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511458del , CM000678.2:g.86511458del | GRCh38 |
| NC_000016.9:g.86545064del , CM000678.1:g.86545064del | GRCh37 |
| NC_000016.8:g.85102565del | NCBI36 |
| NG_016273.1:g.5932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262426.6:c.889del MANE Select | ENSP00000262426.4:p.Ala297ProfsTer? | |
| ENST00000262426.5:c.889del | ENSP00000262426.4:p.Ala297ProfsTer? | |
| NM_001451.2:c.889del | NP_001442.2:p.Ala297ProfsTer? | |
| NM_001451.3:c.889del MANE Select | NP_001442.2:p.Ala297ProfsTer? |