HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269504_31269506del , CM000668.2:g.31269504_31269506del | GRCh38 |
NC_000006.11:g.31237281_31237283del , CM000668.1:g.31237281_31237283del | GRCh37 |
NC_000006.10:g.31345260_31345262del | NCBI36 |
NG_029422.2:g.7626_7628del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1035_1037del MANE Select | ENSP00000365402.5:p.Ser346del | |
ENST00000376228.9:c.1035_1037del | ENSP00000365402.5:p.Ser346del | |
ENST00000376237.8:c.*622_*624del | ENSP00000365412.4:n.*622_*624del | |
ENST00000383329.7:c.1053_1055del | ENSP00000372819.3:p.Ser352del | |
ENST00000466892.5:n.161_163del | ||
ENST00000470363.5:n.793_795del | ||
ENST00000487245.5:n.1394_1396del | ||
NM_002117.5:c.1035_1037del | NP_002108.4:p.Ser346del | |
NM_002117.6:c.1035_1037del MANE Select | NP_002108.4:p.Ser346del |