HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173219_173260del , CM000678.2:g.173219_173260del | GRCh38 |
NC_000016.9:g.223218_223259del , CM000678.1:g.223218_223259del | GRCh37 |
NC_000016.8:g.163218_163259del | NCBI36 |
NG_000006.1:g.34082_34123del | |
NG_059186.1:g.1569_1610del | |
NG_059271.1:g.5373_5414del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.190_231del MANE Select | ENSP00000251595.6:p.Ala64_Met77del | |
ENST00000251595.10:c.190_231del | ENSP00000251595.6:p.Ala64_Met77del | |
ENST00000397806.1:c.94_135del | ENSP00000380908.1:p.Ala32_Met45del | |
ENST00000482565.1:n.326_367del | ||
ENST00000484216.1:n.159_200del | ||
NM_000517.4:c.190_231del | NP_000508.1:p.Ala64_Met77del | |
NM_000517.6:c.190_231del MANE Select | NP_000508.1:p.Ala64_Met77del |