HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432352_229432357del , CM000663.2:g.229432352_229432357del | GRCh38 |
NC_000001.10:g.229568099_229568104del , CM000663.1:g.229568099_229568104del | GRCh37 |
NC_000001.9:g.227634722_227634727del | NCBI36 |
NG_006672.1:g.6740_6745del , LRG_429:g.6740_6745del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.529_534del | ENSP00000355644.4:p.Ile177_Met178del | |
ENST00000684723.1:c.394_399del | ENSP00000508084.1:p.Ile132_Met133del | |
ENST00000366683.3:c.479+50_479+55del | ENSP00000355644.3:n.479+50_479+55del | |
ENST00000366684.7:c.529_534del MANE Select | ENSP00000355645.3:p.Ile177_Met178del | |
NM_001100.3:c.529_534del , LRG_429t1:c.529_534del | NP_001091.1:p.Ile177_Met178del | |
NM_001100.4:c.529_534del MANE Select | NP_001091.1:p.Ile177_Met178del |