Linked Data
gnomAD v4:
16-173480-C-CCACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173481_173484dup , CM000678.2:g.173481_173484dup | GRCh38 |
| NC_000016.9:g.223480_223483dup , CM000678.1:g.223480_223483dup | GRCh37 |
| NC_000016.8:g.163480_163483dup | NCBI36 |
| NG_000006.1:g.34344_34347dup | |
| NG_059186.1:g.1831_1834dup | |
| NG_059271.1:g.5635_5638dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.310_313dup MANE Select | ENSP00000251595.6:p.Cys105SerfsTer? | |
| ENST00000251595.10:c.310_313dup | ENSP00000251595.6:p.Cys105SerfsTer? | |
| ENST00000397806.1:c.214_217dup | ENSP00000380908.1:p.Cys73SerfsTer? | |
| ENST00000482565.1:n.446_449dup | ||
| NM_000517.4:c.310_313dup | NP_000508.1:p.Cys105SerfsTer? | |
| NM_000517.6:c.310_313dup MANE Select | NP_000508.1:p.Cys105SerfsTer? |