Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121811del , CM000668.2:g.18121811del | GRCh38 |
| NC_000006.11:g.18122042del , CM000668.1:g.18122042del | GRCh37 |
| NC_000006.10:g.18230021del | NCBI36 |
| NG_016750.1:g.5813del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.799del MANE Select | NP_940988.2:p.Val267TrpfsTer28 |
| ENST00000340650.6:c.799del MANE Select | ENSP00000345464.3:p.Val267TrpfsTer28 |
| NM_198586.2:c.799del | NP_940988.2:p.Val267TrpfsTer28 |
| ENST00000340650.4:c.799del | ENSP00000345464.3:p.Val267TrpfsTer28 |