Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9089765del , CM000679.2:g.9089765del | GRCh38 |
| NC_000017.10:g.8993082del , CM000679.1:g.8993082del | GRCh37 |
| NC_000017.9:g.8933807del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004822.3:c.1018+66374del MANE Select | NP_004813.2:n.1018+66374del |
| ENST00000173229.7:c.1018+66374del MANE Select | ENSP00000173229.2:n.1018+66374del |
| NM_004822.2:c.1018+66374del | NP_004813.2:n.1018+66374del |
| ENST00000173229.6:c.1018+66374del | ENSP00000173229.2:n.1018+66374del |
| XM_006721595.2:c.1018+66374del | XP_006721658.1:n.1018+66374del |
| XM_006721595.3:c.1018+66374del | XP_006721658.1:n.1018+66374del |