HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226647_5226648delinsAG , CM000673.2:g.5226647_5226648delinsAG | GRCh38 |
NC_000011.9:g.5247877_5247878delinsAG , CM000673.1:g.5247877_5247878delinsAG | GRCh37 |
NC_000011.8:g.5204453_5204454delinsAG | NCBI36 |
NG_000007.3:g.70968_70969delinsCT | |
NG_059281.1:g.5424_5425delinsCT |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.244_245delinsCT | ENSP00000494175.1:p.Leu82= | |
ENST00000335295.4:c.244_245delinsCT MANE Select | ENSP00000333994.3:p.Leu82= | |
ENST00000380315.2:c.244_245delinsCT | ENSP00000369671.2:p.Leu82= | |
ENST00000475226.1:n.176_177delinsCT | ||
ENST00000485743.1:n.295_296delinsCT | ||
ENST00000633227.1:c.*60_*61delinsCT | ENSP00000488004.1:n.*60_*61delinsCT | |
NM_000518.4:c.244_245delinsCT | NP_000509.1:p.Leu82= | |
NM_000518.5:c.244_245delinsCT MANE Select | NP_000509.1:p.Leu82= |