Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511418_86511419del , CM000678.2:g.86511418_86511419del | GRCh38 |
| NC_000016.9:g.86545024_86545025del , CM000678.1:g.86545024_86545025del | GRCh37 |
| NC_000016.8:g.85102525_85102526del | NCBI36 |
| NG_016273.1:g.5892_5893del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.849_850del MANE Select | NP_001442.2:p.Ile285GlnfsTer9 |
| ENST00000262426.6:c.849_850del MANE Select | ENSP00000262426.4:p.Ile285GlnfsTer9 |
| NM_001451.2:c.849_850del | NP_001442.2:p.Ile285GlnfsTer9 |
| ENST00000262426.5:c.849_850del | ENSP00000262426.4:p.Ile285GlnfsTer9 |