Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173598_173600delinsTAA , CM000678.2:g.173598_173600delinsTAA | GRCh38 |
| NC_000016.9:g.223597_223599delinsTAA , CM000678.1:g.223597_223599delinsTAA | GRCh37 |
| NC_000016.8:g.163597_163599delinsTAA | NCBI36 |
| NG_000006.1:g.34461_34463delinsTAA | |
| NG_059186.1:g.1948_1950delinsTAA | |
| NG_059271.1:g.5752_5754delinsTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.427_429delinsTAA MANE Select | ENSP00000251595.6:p.Ter143= | |
| ENST00000251595.10:c.427_429delinsTAA | ENSP00000251595.6:p.Ter143= | |
| ENST00000397806.1:c.331_333delinsTAA | ENSP00000380908.1:p.Ter111= | |
| ENST00000482565.1:n.563_565delinsTAA | ||
| NM_000517.4:c.427_429delinsTAA | NP_000508.1:p.Ter143= | |
| NM_000517.6:c.427_429delinsTAA MANE Select | NP_000508.1:p.Ter143= |