Linked Data
gnomAD v4:
16-173496-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173499del , CM000678.2:g.173499del | GRCh38 |
| NC_000016.9:g.223498del , CM000678.1:g.223498del | GRCh37 |
| NC_000016.8:g.163498del | NCBI36 |
| NG_000006.1:g.34362del | |
| NG_059186.1:g.1849del | |
| NG_059271.1:g.5653del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.328del MANE Select | ENSP00000251595.6:p.Leu110TrpfsTer24 | |
| ENST00000251595.10:c.328del | ENSP00000251595.6:p.Leu110TrpfsTer24 | |
| ENST00000397806.1:c.232del | ENSP00000380908.1:p.Leu78TrpfsTer24 | |
| ENST00000482565.1:n.464del | ||
| NM_000517.4:c.328del | NP_000508.1:p.Leu110TrpfsTer24 | |
| NM_000517.6:c.328del MANE Select | NP_000508.1:p.Leu110TrpfsTer24 |