HGVS | Genome Assembly |
---|---|
NC_000003.12:g.137765507del , CM000665.2:g.137765507del | GRCh38 |
NC_000003.11:g.137484349del , CM000665.1:g.137484349del | GRCh37 |
NC_000003.10:g.138967039del | NCBI36 |
NG_050752.1:g.6216del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306087.3:c.723del MANE Select | ENSP00000305343.1:p.Ter241TyrextTer? | |
ENST00000306087.2:c.723del | ENSP00000305343.1:p.Ter241TyrextTer? | |
NM_004189.3:c.723del | NP_004180.1:p.Ter241TyrextTer? | |
NM_004189.4:c.723del MANE Select | NP_004180.1:p.Ter241TyrextTer? |