Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69810633del , CM000673.2:g.69810633del | GRCh38 |
| NC_000011.9:g.69625401del , CM000673.1:g.69625401del | GRCh37 |
| NC_000011.8:g.69334582del | NCBI36 |
| NG_009016.1:g.13794del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.394del MANE Select | NP_005238.1:p.Arg132GlyfsTer26 |
| ENST00000334134.4:c.394del MANE Select | ENSP00000334122.2:p.Arg132GlyfsTer26 |
| NM_005247.2:c.394del | NP_005238.1:p.Arg132GlyfsTer26 |
| NM_005247.3:c.394del | NP_005238.1:p.Arg132GlyfsTer26 |
| ENST00000334134.2:c.394del | ENSP00000334122.2:p.Arg132GlyfsTer26 |
| ENST00000646078.1:n.241del |