HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225617_5225618delinsAG , CM000673.2:g.5225617_5225618delinsAG | GRCh38 |
NC_000011.9:g.5246847_5246848delinsAG , CM000673.1:g.5246847_5246848delinsAG | GRCh37 |
NC_000011.8:g.5203423_5203424delinsAG | NCBI36 |
NG_000007.3:g.71998_71999delinsCT | |
NG_059281.1:g.6454_6455delinsCT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.424_425delinsCT | ENSP00000494175.1:p.Leu142= | |
ENST00000335295.4:c.424_425delinsCT MANE Select | ENSP00000333994.3:p.Leu142= | |
ENST00000633227.1:c.*240_*241delinsCT | ENSP00000488004.1:n.*240_*241delinsCT | |
NM_000518.4:c.424_425delinsCT | NP_000509.1:p.Leu142= | |
NM_000518.5:c.424_425delinsCT MANE Select | NP_000509.1:p.Leu142= |