HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94782286_94782287del , CM000672.2:g.94782286_94782287del | GRCh38 |
NC_000010.10:g.96542043_96542044del , CM000672.1:g.96542043_96542044del | GRCh37 |
NC_000010.9:g.96532033_96532034del | NCBI36 |
NG_008384.2:g.24581_24582del | |
NG_008384.3:g.24606_24607del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.819+289_819+290del MANE Select | ENSP00000360372.3:n.819+289_819+290del | |
ENST00000645461.1:n.1872+289_1872+290del | ||
ENST00000371321.7:c.819+289_819+290del | ENSP00000360372.3:n.819+289_819+290del | |
ENST00000464755.1:c.1582+289_1582+290del | ENSP00000483243.1:n.1582+289_1582+290del | |
NM_000769.2:c.819+289_819+290del | NP_000760.1:n.819+289_819+290del | |
NM_000769.4:c.819+289_819+290del MANE Select | NP_000760.1:n.819+289_819+290del |