HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226762_5226766delinsCAAAG , CM000673.2:g.5226762_5226766delinsCAAAG | GRCh38 |
NC_000011.9:g.5247992_5247996delinsCAAAG , CM000673.1:g.5247992_5247996delinsCAAAG | GRCh37 |
NC_000011.8:g.5204568_5204572delinsCAAAG | NCBI36 |
NG_000007.3:g.70850_70854delinsCTTTG | |
NG_059281.1:g.5306_5310delinsCTTTG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.126_130delinsCTTTG | ENSP00000494175.1:p.Phe42= | |
ENST00000335295.4:c.126_130delinsCTTTG MANE Select | ENSP00000333994.3:p.Phe42= | |
ENST00000380315.2:c.126_130delinsCTTTG | ENSP00000369671.2:p.Phe42= | |
ENST00000475226.1:n.58_62delinsCTTTG | ||
ENST00000485743.1:n.177_181delinsCTTTG | ||
ENST00000633227.1:c.110_114delinsCTTTG | ENSP00000488004.1:p.Ser37= | |
NM_000518.4:c.126_130delinsCTTTG | NP_000509.1:p.Phe42= | |
NM_000518.5:c.126_130delinsCTTTG MANE Select | NP_000509.1:p.Phe42= |