Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424909_23424911del , CM000676.2:g.23424909_23424911del | GRCh38 |
| NC_000014.8:g.23894118_23894120del , CM000676.1:g.23894118_23894120del | GRCh37 |
| NC_000014.7:g.22963958_22963960del | NCBI36 |
| NG_007884.1:g.15753_15755del , LRG_384:g.15753_15755del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.2539_2541del MANE Select | NP_000248.2:p.Lys847del |
| ENST00000355349.4:c.2539_2541del MANE Select | ENSP00000347507.3:p.Lys847del |
| NM_000257.3:c.2539_2541del | NP_000248.2:p.Lys847del |
| ENST00000355349.3:c.2539_2541del | ENSP00000347507.3:p.Lys847del |
| XM_017021340.1:c.2539_2541del | XP_016876829.1:p.Lys847del |
| XR_245686.3:n.2645_2647del |