Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172972del , CM000678.2:g.172972del | GRCh38 |
| NC_000016.9:g.222971del , CM000678.1:g.222971del | GRCh37 |
| NC_000016.8:g.162971del | NCBI36 |
| NG_000006.1:g.33835del | |
| NG_059186.1:g.1322del | |
| NG_059271.1:g.5126del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.60del MANE Select | NP_000508.1:p.His21ThrfsTer29 |
| ENST00000251595.11:c.60del MANE Select | ENSP00000251595.6:p.His21ThrfsTer29 |
| NM_000517.4:c.60del | NP_000508.1:p.His21ThrfsTer29 |
| ENST00000251595.10:c.60del | ENSP00000251595.6:p.His21ThrfsTer29 |
| ENST00000397806.1:c.-2+14del | ENSP00000380908.1:n.-2+14del |
| ENST00000482565.1:n.79del | |
| ENST00000484216.1:n.29del |