HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173511del , CM000678.2:g.173511del | GRCh38 |
NC_000016.9:g.223510del , CM000678.1:g.223510del | GRCh37 |
NC_000016.8:g.163510del | NCBI36 |
NG_000006.1:g.34374del | |
NG_059186.1:g.1861del | |
NG_059271.1:g.5665del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.340del MANE Select | ENSP00000251595.6:p.Leu114SerfsTer20 | |
ENST00000251595.10:c.340del | ENSP00000251595.6:p.Leu114SerfsTer20 | |
ENST00000397806.1:c.244del | ENSP00000380908.1:p.Leu82SerfsTer20 | |
ENST00000482565.1:n.476del | ||
NM_000517.4:c.340del | NP_000508.1:p.Leu114SerfsTer20 | |
NM_000517.6:c.340del MANE Select | NP_000508.1:p.Leu114SerfsTer20 |