HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270050del , CM000668.2:g.31270050del | GRCh38 |
NC_000006.11:g.31237827del , CM000668.1:g.31237827del | GRCh37 |
NC_000006.10:g.31345806del | NCBI36 |
NG_029422.2:g.7082del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.931del MANE Select | ENSP00000365402.5:p.Ile311SerfsTer11 | |
ENST00000376228.9:c.931del | ENSP00000365402.5:p.Ile311SerfsTer11 | |
ENST00000376237.8:c.*518del | ENSP00000365412.4:n.*518del | |
ENST00000383329.7:c.931del | ENSP00000372819.3:p.Ile311SerfsTer11 | |
ENST00000470363.5:n.249del | ||
ENST00000487245.5:n.1290del | ||
NM_002117.5:c.931del | NP_002108.4:p.Ile311SerfsTer11 | |
NM_002117.6:c.931del MANE Select | NP_002108.4:p.Ile311SerfsTer11 |