HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270356del , CM000668.2:g.31270356del | GRCh38 |
NC_000006.11:g.31238133del , CM000668.1:g.31238133del | GRCh37 |
NC_000006.10:g.31346112del | NCBI36 |
NG_029422.2:g.6776del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.749del MANE Select | ENSP00000365402.5:p.Gln250ArgfsTer? | |
ENST00000376228.9:c.749del | ENSP00000365402.5:p.Gln250ArgfsTer? | |
ENST00000376237.8:c.*336del | ENSP00000365412.4:n.*336del | |
ENST00000383329.7:c.749del | ENSP00000372819.3:p.Gln250ArgfsTer? | |
ENST00000415537.1:c.665-25del | ||
ENST00000470363.5:n.67del | ||
ENST00000487245.5:n.1108del | ||
ENST00000495835.1:n.938del | ||
NM_002117.5:c.749del | NP_002108.4:p.Gln250ArgfsTer? | |
NM_002117.6:c.749del MANE Select | NP_002108.4:p.Gln250ArgfsTer? |