HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269511del , CM000668.2:g.31269511del | GRCh38 |
NC_000006.11:g.31237288del , CM000668.1:g.31237288del | GRCh37 |
NC_000006.10:g.31345267del | NCBI36 |
NG_029422.2:g.7621del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1030del MANE Select | ENSP00000365402.5:p.Ser344AlafsTer? | |
ENST00000376228.9:c.1030del | ENSP00000365402.5:p.Ser344AlafsTer? | |
ENST00000376237.8:c.*617del | ENSP00000365412.4:n.*617del | |
ENST00000383329.7:c.1048del | ENSP00000372819.3:p.Ser350AlafsTer? | |
ENST00000466892.5:n.156del | ||
ENST00000470363.5:n.788del | ||
ENST00000487245.5:n.1389del | ||
NM_002117.5:c.1030del | NP_002108.4:p.Ser344AlafsTer? | |
NM_002117.6:c.1030del MANE Select | NP_002108.4:p.Ser344AlafsTer? |