HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94043464del , CM000663.2:g.94043464del | GRCh38 |
NC_000001.10:g.94509020del , CM000663.1:g.94509020del | GRCh37 |
NC_000001.9:g.94281608del | NCBI36 |
NG_009073.1:g.82686del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3062del MANE Select | ENSP00000359245.3:p.Ala1021ValfsTer10 | |
ENST00000370225.3:c.3062del | ENSP00000359245.3:p.Ala1021ValfsTer10 | |
ENST00000536513.5:c.-64-3375del | ENSP00000439707.2:n.-64-3375del | |
NM_000350.2:c.3062del | NP_000341.2:p.Ala1021ValfsTer10 | |
NM_000350.3:c.3062del MANE Select | NP_000341.2:p.Ala1021ValfsTer10 |