HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173217_173219del , CM000678.2:g.173217_173219del | GRCh38 |
NC_000016.9:g.223216_223218del , CM000678.1:g.223216_223218del | GRCh37 |
NC_000016.8:g.163216_163218del | NCBI36 |
NG_000006.1:g.34080_34082del | |
NG_059186.1:g.1567_1569del | |
NG_059271.1:g.5371_5373del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.188_190del MANE Select | ENSP00000251595.6:p.Val63del | |
ENST00000251595.10:c.188_190del | ENSP00000251595.6:p.Val63del | |
ENST00000397806.1:c.92_94del | ENSP00000380908.1:p.Val31del | |
ENST00000482565.1:n.324_326del | ||
ENST00000484216.1:n.157_159del | ||
NM_000517.4:c.188_190del | NP_000508.1:p.Val63del | |
NM_000517.6:c.188_190del MANE Select | NP_000508.1:p.Val63del |