HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022616del , CM000663.2:g.17022616del | GRCh38 |
NC_000001.10:g.17349111del , CM000663.1:g.17349111del | GRCh37 |
NC_000001.9:g.17221698del | NCBI36 |
NG_012340.1:g.36555del , LRG_316:g.36555del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.586del | ENSP00000481376.2:p.Cys196ValfsTer5 | |
ENST00000491274.6:c.715del | ENSP00000480482.2:p.Cys239ValfsTer5 | |
ENST00000375499.8:c.757del MANE Select | ENSP00000364649.3:p.Cys253ValfsTer5 | |
ENST00000375499.7:c.757del | ENSP00000364649.3:p.Cys253ValfsTer5 | |
ENST00000475049.5:n.182del | ||
ENST00000485092.5:n.421del | ||
ENST00000485515.5:n.691del | ||
NM_003000.2:c.757del , LRG_316t1:c.757del | NP_002991.2:p.Cys253ValfsTer5 | |
NM_003000.3:c.757del MANE Select | NP_002991.2:p.Cys253ValfsTer5 |