HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269989_31269990insAA , CM000668.2:g.31269989_31269990insAA | GRCh38 |
NC_000006.11:g.31237766_31237767insAA , CM000668.1:g.31237766_31237767insAA | GRCh37 |
NC_000006.10:g.31345745_31345746insAA | NCBI36 |
NG_029422.2:g.7143_7144insTT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.992_993insTT MANE Select | ENSP00000365402.5:p.Met331IlefsTer2 | |
ENST00000376228.9:c.992_993insTT | ENSP00000365402.5:p.Met331IlefsTer2 | |
ENST00000376237.8:c.*579_*580insTT | ENSP00000365412.4:n.*579_*580insTT | |
ENST00000383329.7:c.992_993insTT | ENSP00000372819.3:p.Met331IlefsTer2 | |
ENST00000470363.5:n.310_311insTT | ||
ENST00000487245.5:n.1351_1352insTT | ||
NM_002117.5:c.992_993insTT | NP_002108.4:p.Met331IlefsTer2 | |
NM_002117.6:c.992_993insTT MANE Select | NP_002108.4:p.Met331IlefsTer2 |