Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511534del , CM000678.2:g.86511534del | GRCh38 |
| NC_000016.9:g.86545140del , CM000678.1:g.86545140del | GRCh37 |
| NC_000016.8:g.85102641del | NCBI36 |
| NG_016273.1:g.6008del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.965del MANE Select | NP_001442.2:p.Pro322GlnfsTer? |
| ENST00000262426.6:c.965del MANE Select | ENSP00000262426.4:p.Pro322GlnfsTer? |
| NM_001451.2:c.965del | NP_001442.2:p.Pro322GlnfsTer? |
| ENST00000262426.5:c.965del | ENSP00000262426.4:p.Pro322GlnfsTer? |