HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1612737_1612738del , CM000668.2:g.1612737_1612738del | GRCh38 |
NC_000006.11:g.1612972_1612973del , CM000668.1:g.1612972_1612973del | GRCh37 |
NC_000006.10:g.1557971_1557972del | NCBI36 |
NG_009368.1:g.7292_7293del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.*630_*631del MANE Select | ENSP00000493906.1:n.*630_*631del | |
ENST00000380874.3:c.*630_*631del | ENSP00000370256.2:n.*630_*631del | |
NM_001453.2:c.2292_2293del | NP_001444.2:n.2292_2293del | |
NM_001453.3:c.*630_*631del MANE Select | NP_001444.2:n.*630_*631del |