Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173178_173179del , CM000678.2:g.173178_173179del | GRCh38 |
| NC_000016.9:g.223177_223178del , CM000678.1:g.223177_223178del | GRCh37 |
| NC_000016.8:g.163177_163178del | NCBI36 |
| NG_000006.1:g.34041_34042del | |
| NG_059186.1:g.1528_1529del | |
| NG_059271.1:g.5332_5333del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.149_150del MANE Select | NP_000508.1:p.Ser50ThrfsTer7 |
| ENST00000251595.11:c.149_150del MANE Select | ENSP00000251595.6:p.Ser50ThrfsTer7 |
| NM_000517.4:c.149_150del | NP_000508.1:p.Ser50ThrfsTer7 |
| ENST00000251595.10:c.149_150del | ENSP00000251595.6:p.Ser50ThrfsTer7 |
| ENST00000397806.1:c.53_54del | ENSP00000380908.1:p.Ser18ThrfsTer7 |
| ENST00000482565.1:n.285_286del | |
| ENST00000484216.1:n.118_119del |