HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739592_120739615del , CM000674.2:g.120739592_120739615del | GRCh38 |
NC_000012.11:g.121177395_121177418del , CM000674.1:g.121177395_121177418del | GRCh37 |
NC_000012.10:g.119661778_119661801del | NCBI36 |
NG_007991.1:g.18825_18848del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*144_*167del MANE Select | ENSP00000242592.4:n.*144_*167del | |
ENST00000242592.8:c.*144_*167del | ENSP00000242592.4:n.*144_*167del | |
NM_000017.3:c.*144_*167del | NP_000008.1:n.*144_*167del | |
NM_001302554.1:c.*144_*167del | NP_001289483.1:n.*144_*167del | |
NM_000017.4:c.*144_*167del MANE Select | NP_000008.1:n.*144_*167del | |
NM_001302554.2:c.*144_*167del | NP_001289483.1:n.*144_*167del |