HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271290del , CM000668.2:g.31271290del | GRCh38 |
NC_000006.11:g.31239067del , CM000668.1:g.31239067del | GRCh37 |
NC_000006.10:g.31347046del | NCBI36 |
NG_029422.2:g.5843del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.403del MANE Select | ENSP00000365402.5:p.Arg135AlafsTer16 | |
ENST00000376228.9:c.403del | ENSP00000365402.5:p.Arg135AlafsTer16 | |
ENST00000376237.8:c.386del | ENSP00000365412.4:p.Pro129ArgfsTer? | |
ENST00000383329.7:c.403del | ENSP00000372819.3:p.Arg135AlafsTer16 | |
ENST00000415537.1:c.401del | ||
ENST00000484378.1:n.672del | ||
ENST00000487245.5:n.762del | ||
ENST00000495835.1:n.592del | ||
NM_002117.5:c.403del | NP_002108.4:p.Arg135AlafsTer16 | |
NM_002117.6:c.403del MANE Select | NP_002108.4:p.Arg135AlafsTer16 |