HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225663_5225664delinsCT , CM000673.2:g.5225663_5225664delinsCT | GRCh38 |
NC_000011.9:g.5246893_5246894delinsCT , CM000673.1:g.5246893_5246894delinsCT | GRCh37 |
NC_000011.8:g.5203469_5203470delinsCT | NCBI36 |
NG_000007.3:g.71952_71953delinsAG | |
NG_059281.1:g.6408_6409delinsAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.378_379delinsAG | ENSP00000494175.1:p.Pro126= | |
ENST00000335295.4:c.378_379delinsAG MANE Select | ENSP00000333994.3:p.Pro126= | |
ENST00000475226.1:n.310_311delinsAG | ||
ENST00000633227.1:c.*194_*195delinsAG | ENSP00000488004.1:n.*194_*195delinsAG | |
NM_000518.4:c.378_379delinsAG | NP_000509.1:p.Pro126= | |
NM_000518.5:c.378_379delinsAG MANE Select | NP_000509.1:p.Pro126= |