HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268903_31268904del , CM000668.2:g.31268903_31268904del | GRCh38 |
NC_000006.11:g.31236680_31236681del , CM000668.1:g.31236680_31236681del | GRCh37 |
NC_000006.10:g.31344659_31344660del | NCBI36 |
NG_029422.2:g.8228_8229del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*265_*266del MANE Select | ENSP00000365402.5:n.*265_*266del | |
ENST00000376228.9:c.*265_*266del | ENSP00000365402.5:n.*265_*266del | |
ENST00000376237.8:c.*953_*954del | ENSP00000365412.4:n.*953_*954del | |
ENST00000383329.7:c.*265_*266del | ENSP00000372819.3:n.*265_*266del | |
ENST00000466892.5:n.599_600del | ||
ENST00000470363.5:n.1124_1125del | ||
ENST00000487245.5:n.1725_1726del | ||
NM_002117.5:c.*265_*266del | NP_002108.4:n.*265_*266del | |
NM_002117.6:c.*265_*266del MANE Select | NP_002108.4:n.*265_*266del |