HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271280_31271282del , CM000668.2:g.31271280_31271282del | GRCh38 |
NC_000006.11:g.31239057_31239059del , CM000668.1:g.31239057_31239059del | GRCh37 |
NC_000006.10:g.31347036_31347038del | NCBI36 |
NG_029422.2:g.5851_5853del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.411_413del MANE Select | ENSP00000365402.5:p.Asp138del | |
ENST00000376228.9:c.411_413del | ENSP00000365402.5:p.Asp138del | |
ENST00000376237.8:c.394_396del | ENSP00000365412.4:p.Ter132del | |
ENST00000383329.7:c.411_413del | ENSP00000372819.3:p.Asp138del | |
ENST00000415537.1:c.409_411del | ||
ENST00000484378.1:n.680_682del | ||
ENST00000487245.5:n.770_772del | ||
ENST00000495835.1:n.600_602del | ||
NM_002117.5:c.411_413del | NP_002108.4:p.Asp138del | |
NM_002117.6:c.411_413del MANE Select | NP_002108.4:p.Asp138del |