Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173255_173257del , CM000678.2:g.173255_173257del | GRCh38 |
| NC_000016.9:g.223254_223256del , CM000678.1:g.223254_223256del | GRCh37 |
| NC_000016.8:g.163254_163256del | NCBI36 |
| NG_000006.1:g.34118_34120del | |
| NG_059186.1:g.1605_1607del | |
| NG_059271.1:g.5409_5411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.226_228del MANE Select | ENSP00000251595.6:p.Asp76del | |
| ENST00000251595.10:c.226_228del | ENSP00000251595.6:p.Asp76del | |
| ENST00000397806.1:c.130_132del | ENSP00000380908.1:p.Asp44del | |
| ENST00000482565.1:n.362_364del | ||
| ENST00000484216.1:n.195_197del | ||
| NM_000517.4:c.226_228del | NP_000508.1:p.Asp76del | |
| NM_000517.6:c.226_228del MANE Select | NP_000508.1:p.Asp76del |