HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24174719_24174720del , CM000668.2:g.24174719_24174720del | GRCh38 |
NC_000006.11:g.24174947_24174948del , CM000668.1:g.24174947_24174948del | GRCh37 |
NC_000006.10:g.24282926_24282927del | NCBI36 |
NG_012829.1:g.188336_188337del | |
NG_012829.2:g.213576_213577del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.*13_*14del MANE Select | ENSP00000367715.3:n.*13_*14del | |
ENST00000378450.6:c.*13_*14del | ENSP00000367711.3:n.*13_*14del | |
ENST00000378454.7:c.*13_*14del | ENSP00000367715.3:n.*13_*14del | |
NM_001195610.1:c.*13_*14del | NP_001182539.1:n.*13_*14del | |
NM_016356.4:c.*13_*14del | NP_057440.2:n.*13_*14del | |
NM_016356.5:c.*13_*14del MANE Select | NP_057440.2:n.*13_*14del | |
NM_001195610.2:c.*13_*14del | NP_001182539.1:n.*13_*14del |