HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739544_120739555del , CM000674.2:g.120739544_120739555del | GRCh38 |
NC_000012.11:g.121177347_121177358del , CM000674.1:g.121177347_121177358del | GRCh37 |
NC_000012.10:g.119661730_119661741del | NCBI36 |
NG_007991.1:g.18777_18788del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*96_*107del MANE Select | ENSP00000242592.4:n.*96_*107del | |
ENST00000242592.8:c.*96_*107del | ENSP00000242592.4:n.*96_*107del | |
ENST00000411593.2:c.*96_*107del | ENSP00000401045.2:n.*96_*107del | |
NM_000017.3:c.*96_*107del | NP_000008.1:n.*96_*107del | |
NM_001302554.1:c.*96_*107del | NP_001289483.1:n.*96_*107del | |
NM_000017.4:c.*96_*107del MANE Select | NP_000008.1:n.*96_*107del | |
NM_001302554.2:c.*96_*107del | NP_001289483.1:n.*96_*107del |