HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269116_31269117del , CM000668.2:g.31269116_31269117del | GRCh38 |
NC_000006.11:g.31236893_31236894del , CM000668.1:g.31236893_31236894del | GRCh37 |
NC_000006.10:g.31344872_31344873del | NCBI36 |
NG_029422.2:g.8017_8018del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*54_*55del MANE Select | ENSP00000365402.5:n.*54_*55del | |
ENST00000376228.9:c.*54_*55del | ENSP00000365402.5:n.*54_*55del | |
ENST00000376237.8:c.*742_*743del | ENSP00000365412.4:n.*742_*743del | |
ENST00000383329.7:c.*54_*55del | ENSP00000372819.3:n.*54_*55del | |
ENST00000466892.5:n.388_389del | ||
ENST00000470363.5:n.913_914del | ||
ENST00000487245.5:n.1514_1515del | ||
NM_002117.5:c.*54_*55del | NP_002108.4:n.*54_*55del | |
NM_002117.6:c.*54_*55del MANE Select | NP_002108.4:n.*54_*55del |