HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271265_31271267del , CM000668.2:g.31271265_31271267del | GRCh38 |
NC_000006.11:g.31239042_31239044del , CM000668.1:g.31239042_31239044del | GRCh37 |
NC_000006.10:g.31347021_31347023del | NCBI36 |
NG_029422.2:g.5868_5870del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.428_430del MANE Select | ENSP00000365402.5:p.Asp143del | |
ENST00000376228.9:c.428_430del | ENSP00000365402.5:p.Asp143del | |
ENST00000376237.8:c.*15_*17del | ENSP00000365412.4:n.*15_*17del | |
ENST00000383329.7:c.428_430del | ENSP00000372819.3:p.Asp143del | |
ENST00000415537.1:c.426_428del | ||
ENST00000484378.1:n.697_699del | ||
ENST00000487245.5:n.787_789del | ||
ENST00000495835.1:n.617_619del | ||
NM_002117.5:c.428_430del | NP_002108.4:p.Asp143del | |
NM_002117.6:c.428_430del MANE Select | NP_002108.4:p.Asp143del |