HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225536del , CM000673.2:g.5225536del | GRCh38 |
NC_000011.9:g.5246766del , CM000673.1:g.5246766del | GRCh37 |
NC_000011.8:g.5203342del | NCBI36 |
NG_000007.3:g.72082del | |
NG_059281.1:g.6538del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.*64del | ENSP00000494175.1:n.*64del | |
ENST00000335295.4:c.*64del MANE Select | ENSP00000333994.3:n.*64del | |
ENST00000633227.1:c.*324del | ENSP00000488004.1:n.*324del | |
NM_000518.4:c.*64del | NP_000509.1:n.*64del | |
NM_000518.5:c.*64del MANE Select | NP_000509.1:n.*64del |