HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24174746_24174747del , CM000668.2:g.24174746_24174747del | GRCh38 |
NC_000006.11:g.24174974_24174975del , CM000668.1:g.24174974_24174975del | GRCh37 |
NC_000006.10:g.24282953_24282954del | NCBI36 |
NG_012829.1:g.188307_188308del | |
NG_012829.2:g.213547_213548del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1415_1416del MANE Select | ENSP00000367715.3:p.Tyr472CysfsTer9 | |
ENST00000378450.6:c.674_675del | ENSP00000367711.3:p.Tyr225CysfsTer9 | |
ENST00000378454.7:c.1415_1416del | ENSP00000367715.3:p.Tyr472CysfsTer9 | |
NM_001195610.1:c.1415_1416del | NP_001182539.1:p.Tyr472CysfsTer9 | |
NM_016356.4:c.1415_1416del | NP_057440.2:p.Tyr472CysfsTer9 | |
NM_016356.5:c.1415_1416del MANE Select | NP_057440.2:p.Tyr472CysfsTer9 | |
NM_001195610.2:c.1415_1416del | NP_001182539.1:p.Tyr472CysfsTer9 |