HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271327_31271333del , CM000668.2:g.31271327_31271333del | GRCh38 |
NC_000006.11:g.31239104_31239110del , CM000668.1:g.31239104_31239110del | GRCh37 |
NC_000006.10:g.31347083_31347089del | NCBI36 |
NG_029422.2:g.5799_5805del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.359_365del MANE Select | ENSP00000365402.5:p.Gln120ArgfsTer29 | |
ENST00000376228.9:c.359_365del | ENSP00000365402.5:p.Gln120ArgfsTer29 | |
ENST00000376237.8:c.344-2_348del | ||
ENST00000383329.7:c.359_365del | ENSP00000372819.3:p.Gln120ArgfsTer29 | |
ENST00000415537.1:c.357_363del | ||
ENST00000484378.1:n.628_634del | ||
ENST00000487245.5:n.718_724del | ||
ENST00000495835.1:n.548_554del | ||
NM_002117.5:c.359_365del | NP_002108.4:p.Gln120ArgfsTer29 | |
NM_002117.6:c.359_365del MANE Select | NP_002108.4:p.Gln120ArgfsTer29 |