HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132868757del , CM000667.2:g.132868757del | GRCh38 |
NC_000005.9:g.132204449del , CM000667.1:g.132204449del | GRCh37 |
NC_000005.8:g.132232348del | NCBI36 |
NG_012221.1:g.7131del | |
NG_047051.1:g.3129del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378670.8:c.*1175del MANE Select | ENSP00000367939.3:n.*1175del | |
NM_014402.4:c.*1175del | NP_055217.2:n.*1175del | |
NM_014402.5:c.*1175del MANE Select | NP_055217.2:n.*1175del |