HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225663_5225671delinsCTGGTGGGG , CM000673.2:g.5225663_5225671delinsCTGGTGGGG | GRCh38 |
NC_000011.9:g.5246893_5246901delinsCTGGTGGGG , CM000673.1:g.5246893_5246901delinsCTGGTGGGG | GRCh37 |
NC_000011.8:g.5203469_5203477delinsCTGGTGGGG | NCBI36 |
NG_000007.3:g.71945_71953delinsCCCCACCAG | |
NG_059281.1:g.6401_6409delinsCCCCACCAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.371_379delinsCCCCACCAG | ENSP00000494175.1:p.Thr124= | |
ENST00000335295.4:c.371_379delinsCCCCACCAG MANE Select | ENSP00000333994.3:p.Thr124= | |
ENST00000475226.1:n.303_311delinsCCCCACCAG | ||
ENST00000633227.1:c.*187_*195delinsCCCCACCAG | ENSP00000488004.1:n.*187_*195delinsCCCCAC... | |
NM_000518.4:c.371_379delinsCCCCACCAG | NP_000509.1:p.Thr124= | |
NM_000518.5:c.371_379delinsCCCCACCAG MANE Select | NP_000509.1:p.Thr124= |