Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511371_86511374del , CM000678.2:g.86511371_86511374del | GRCh38 |
| NC_000016.9:g.86544977_86544980del , CM000678.1:g.86544977_86544980del | GRCh37 |
| NC_000016.8:g.85102478_85102481del | NCBI36 |
| NG_016273.1:g.5845_5848del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.802_805del MANE Select | NP_001442.2:p.Ala268ProfsTer? |
| ENST00000262426.6:c.802_805del MANE Select | ENSP00000262426.4:p.Ala268ProfsTer? |
| NM_001451.2:c.802_805del | NP_001442.2:p.Ala268ProfsTer? |
| ENST00000262426.5:c.802_805del | ENSP00000262426.4:p.Ala268ProfsTer? |