HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10672710_10672711delinsTT , CM000682.2:g.10672710_10672711delinsTT | GRCh38 |
NC_000020.10:g.10653358_10653359delinsTT , CM000682.1:g.10653358_10653359delinsTT | GRCh37 |
NC_000020.9:g.10601358_10601359delinsTT | NCBI36 |
NG_007496.1:g.6336_6337delinsAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.377_378delinsAA MANE Select | ENSP00000254958.4:p.Phe126Ter | |
ENST00000254958.9:c.377_378delinsAA | ENSP00000254958.4:p.Phe126Ter | |
NM_000214.2:c.377_378delinsAA | NP_000205.1:p.Phe126Ter | |
NM_000214.3:c.377_378delinsAA MANE Select | NP_000205.1:p.Phe126Ter |