HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271086_31271087del , CM000668.2:g.31271086_31271087del | GRCh38 |
NC_000006.11:g.31238863_31238864del , CM000668.1:g.31238863_31238864del | GRCh37 |
NC_000006.10:g.31346842_31346843del | NCBI36 |
NG_029422.2:g.6046_6047del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.606_607del MANE Select | ENSP00000365402.5:p.Leu203AlafsTer17 | |
ENST00000376228.9:c.606_607del | ENSP00000365402.5:p.Leu203AlafsTer17 | |
ENST00000376237.8:c.*193_*194del | ENSP00000365412.4:n.*193_*194del | |
ENST00000383329.7:c.606_607del | ENSP00000372819.3:p.Leu203AlafsTer17 | |
ENST00000415537.1:c.604_605del | ||
ENST00000487245.5:n.965_966del | ||
ENST00000495835.1:n.795_796del | ||
NM_002117.5:c.606_607del | NP_002108.4:p.Leu203AlafsTer17 | |
NM_002117.6:c.606_607del MANE Select | NP_002108.4:p.Leu203AlafsTer17 |