Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173152del , CM000678.2:g.173152del | GRCh38 |
| NC_000016.9:g.223151del , CM000678.1:g.223151del | GRCh37 |
| NC_000016.8:g.163151del | NCBI36 |
| NG_000006.1:g.34015del | |
| NG_059186.1:g.1502del | |
| NG_059271.1:g.5306del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.123del MANE Select | ENSP00000251595.6:p.Thr42ProfsTer8 | |
| ENST00000251595.10:c.123del | ENSP00000251595.6:p.Thr42ProfsTer8 | |
| ENST00000397806.1:c.27del | ENSP00000380908.1:p.Thr10ProfsTer8 | |
| ENST00000482565.1:n.259del | ||
| ENST00000484216.1:n.92del | ||
| NM_000517.4:c.123del | NP_000508.1:p.Thr42ProfsTer8 | |
| NM_000517.6:c.123del MANE Select | NP_000508.1:p.Thr42ProfsTer8 |