HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269990_31269991del , CM000668.2:g.31269990_31269991del | GRCh38 |
NC_000006.11:g.31237767_31237768del , CM000668.1:g.31237767_31237768del | GRCh37 |
NC_000006.10:g.31345746_31345747del | NCBI36 |
NG_029422.2:g.7142_7143del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.991_992del MANE Select | ENSP00000365402.5:p.Met331AspfsTer3 | |
ENST00000376228.9:c.991_992del | ENSP00000365402.5:p.Met331AspfsTer3 | |
ENST00000376237.8:c.*578_*579del | ENSP00000365412.4:n.*578_*579del | |
ENST00000383329.7:c.991_992del | ENSP00000372819.3:p.Met331AspfsTer3 | |
ENST00000470363.5:n.309_310del | ||
ENST00000487245.5:n.1350_1351del | ||
NM_002117.5:c.991_992del | NP_002108.4:p.Met331AspfsTer3 | |
NM_002117.6:c.991_992del MANE Select | NP_002108.4:p.Met331AspfsTer3 |