Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916222_50916223del , CM000685.2:g.50916222_50916223del | GRCh38 |
| NC_000023.10:g.50659222_50659223del , CM000685.1:g.50659222_50659223del | GRCh37 |
| NC_000023.9:g.50675962_50675963del | NCBI36 |
| NG_012894.1:g.10439_10440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.794_795del MANE Select | ENSP00000252677.3:p.Arg265AsnfsTer10 | |
| ENST00000252677.3:c.794_795del | ENSP00000252677.3:p.Arg265AsnfsTer10 | |
| NM_005448.2:c.794_795del MANE Select | NP_005439.2:p.Arg265AsnfsTer10 |