HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226562_5226563insCC , CM000673.2:g.5226562_5226563insCC | GRCh38 |
NC_000011.9:g.5247792_5247793insCC , CM000673.1:g.5247792_5247793insCC | GRCh37 |
NC_000011.8:g.5204368_5204369insCC | NCBI36 |
NG_000007.3:g.71053_71054insGG | |
NG_059281.1:g.5509_5510insGG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+14_315+15insGG | ENSP00000494175.1:n.315+14_315+15insGG | |
ENST00000335295.4:c.315+14_315+15insGG MANE Select | ENSP00000333994.3:n.315+14_315+15insGG | |
ENST00000475226.1:n.247+14_247+15insGG | ||
ENST00000485743.1:n.380_381insGG | ||
ENST00000633227.1:c.*131+14_*131+15insGG | ENSP00000488004.1:n.*131+14_*131+15insGG | |
NM_000518.4:c.315+14_315+15insGG | NP_000509.1:n.315+14_315+15insGG | |
NM_000518.5:c.315+14_315+15insGG MANE Select | NP_000509.1:n.315+14_315+15insGG |