HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226573_5226575delinsTCA , CM000673.2:g.5226573_5226575delinsTCA | GRCh38 |
NC_000011.9:g.5247803_5247805delinsTCA , CM000673.1:g.5247803_5247805delinsTCA | GRCh37 |
NC_000011.8:g.5204379_5204381delinsTCA | NCBI36 |
NG_000007.3:g.71041_71043delinsTGA | |
NG_059281.1:g.5497_5499delinsTGA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+2_315+4delinsTGA | ENSP00000494175.1:n.315+2_315+4delinsTGA | |
ENST00000335295.4:c.315+2_315+4delinsTGA MANE Select | ENSP00000333994.3:n.315+2_315+4delinsTGA | |
ENST00000475226.1:n.247+2_247+4delinsTGA | ||
ENST00000485743.1:n.368_370delinsTGA | ||
ENST00000633227.1:c.*131+2_*131+4delinsTGA | ENSP00000488004.1:n.*131+2_*131+4delinsTG... | |
NM_000518.4:c.315+2_315+4delinsTGA | NP_000509.1:n.315+2_315+4delinsTGA | |
NM_000518.5:c.315+2_315+4delinsTGA MANE Select | NP_000509.1:n.315+2_315+4delinsTGA |