HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270384del , CM000668.2:g.31270384del | GRCh38 |
NC_000006.11:g.31238161del , CM000668.1:g.31238161del | GRCh37 |
NC_000006.10:g.31346140del | NCBI36 |
NG_029422.2:g.6748del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.721del MANE Select | ENSP00000365402.5:p.Trp241GlyfsTer? | |
ENST00000376228.9:c.721del | ENSP00000365402.5:p.Trp241GlyfsTer? | |
ENST00000376237.8:c.*308del | ENSP00000365412.4:n.*308del | |
ENST00000383329.7:c.721del | ENSP00000372819.3:p.Trp241GlyfsTer? | |
ENST00000415537.1:c.665-53del | ||
ENST00000470363.5:n.39del | ||
ENST00000487245.5:n.1080del | ||
ENST00000495835.1:n.910del | ||
NM_002117.5:c.721del | NP_002108.4:p.Trp241GlyfsTer? | |
NM_002117.6:c.721del MANE Select | NP_002108.4:p.Trp241GlyfsTer? |