HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173006_173007del , CM000678.2:g.173006_173007del | GRCh38 |
NC_000016.9:g.223005_223006del , CM000678.1:g.223005_223006del | GRCh37 |
NC_000016.8:g.163005_163006del | NCBI36 |
NG_000006.1:g.33869_33870del | |
NG_059186.1:g.1356_1357del | |
NG_059271.1:g.5160_5161del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.94_95del MANE Select | ENSP00000251595.6:p.Arg32AspfsTer25 | |
ENST00000251595.10:c.94_95del | ENSP00000251595.6:p.Arg32AspfsTer25 | |
ENST00000397806.1:c.-2+48_-2+49del | ENSP00000380908.1:n.-2+48_-2+49del | |
ENST00000482565.1:n.113_114del | ||
ENST00000484216.1:n.63_64del | ||
NM_000517.4:c.94_95del | NP_000508.1:p.Arg32AspfsTer25 | |
NM_000517.6:c.94_95del MANE Select | NP_000508.1:p.Arg32AspfsTer25 |