Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42945620_42945629del , CM000677.2:g.42945620_42945629del | GRCh38 |
| NC_000015.9:g.43237818_43237827del , CM000677.1:g.43237818_43237827del | GRCh37 |
| NC_000015.8:g.41025110_41025119del | NCBI36 |
| NG_012182.1:g.165464_165473del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.5109-155_5109-146del MANE Select | NP_777576.1:n.5109-155_5109-146del |
| ENST00000290650.9:c.5109-155_5109-146del MANE Select | ENSP00000290650.4:n.5109-155_5109-146del |
| NM_174916.2:c.5109-155_5109-146del | NP_777576.1:n.5109-155_5109-146del |
| ENST00000290650.8:c.5109-155_5109-146del | ENSP00000290650.4:n.5109-155_5109-146del |
| ENST00000562173.1:n.314-155_314-146del |