HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637635del , CM000672.2:g.92637635del | GRCh38 |
NC_000010.10:g.94397392del , CM000672.1:g.94397392del | GRCh37 |
NC_000010.9:g.94387372del | NCBI36 |
NG_032580.1:g.49568del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2160+90del MANE Select | ENSP00000260731.3:n.2160+90del | |
ENST00000676621.1:c.*678+90del | ENSP00000503639.1:n.*678+90del | |
ENST00000676647.1:c.1953+90del | ENSP00000503394.1:n.1953+90del | |
ENST00000676757.1:c.1953+90del | ENSP00000504289.1:n.1953+90del | |
ENST00000677720.1:c.*134+90del | ENSP00000504840.1:n.*134+90del | |
ENST00000260731.4:c.2160+90del | ENSP00000260731.3:n.2160+90del | |
NM_004523.3:c.2160+90del | NP_004514.2:n.2160+90del | |
NM_004523.4:c.2160+90del MANE Select | NP_004514.2:n.2160+90del |