HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021378del , CM000663.2:g.94021378del | GRCh38 |
NC_000001.10:g.94486934del , CM000663.1:g.94486934del | GRCh37 |
NC_000001.9:g.94259522del | NCBI36 |
NG_009073.1:g.104772del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4880del MANE Select | ENSP00000359245.3:p.Leu1627ArgfsTer? | |
ENST00000370225.3:c.4880del | ENSP00000359245.3:p.Leu1627ArgfsTer? | |
ENST00000460514.1:n.374del | ||
ENST00000536513.5:c.1256del | ENSP00000439707.2:p.Leu419ArgfsTer? | |
NM_000350.2:c.4880del | NP_000341.2:p.Leu1627ArgfsTer? | |
NM_000350.3:c.4880del MANE Select | NP_000341.2:p.Leu1627ArgfsTer? |