HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646752_68646753del , CM000666.2:g.68646752_68646753del | GRCh38 |
NC_000004.11:g.69512470_69512471del , CM000666.1:g.69512470_69512471del | GRCh37 |
NC_000004.10:g.69195065_69195066del | NCBI36 |
NG_052676.1:g.29025_29026del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*352_*353del MANE Select | ENSP00000341045.5:n.*352_*353del | |
ENST00000338206.5:c.*352_*353del | ENSP00000341045.5:n.*352_*353del | |
ENST00000616841.4:c.1732+213_1732+214del | ENSP00000482004.1:n.1732+213_1732+214del | |
NM_001076.3:c.*352_*353del | NP_001067.2:n.*352_*353del | |
NM_001076.4:c.*352_*353del MANE Select | NP_001067.2:n.*352_*353del |