Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586818del , CM000679.2:g.41586818del | GRCh38 |
| NC_000017.10:g.39743070del , CM000679.1:g.39743070del | GRCh37 |
| NC_000017.9:g.36996596del | NCBI36 |
| NG_008624.1:g.5078del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.17del MANE Select | NP_000517.3:p.Arg6ProfsTer9 |
| ENST00000167586.7:c.17del MANE Select | ENSP00000167586.6:p.Arg6ProfsTer9 |
| NM_000526.4:c.17del | NP_000517.2:p.Arg6ProfsTer9 |
| ENST00000167586.6:c.17del | ENSP00000167586.6:p.Arg6ProfsTer9 |