HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082914_3082915insCCGG , CM000682.2:g.3082914_3082915insCCGG | GRCh38 |
NC_000020.10:g.3063560_3063561insCCGG , CM000682.1:g.3063560_3063561insCCGG | GRCh37 |
NC_000020.9:g.3011560_3011561insCCGG | NCBI36 |
NG_008663.1:g.6810_6811insCCGG , LRG_715:g.6810_6811insCCGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.322+62_322+63insCCGG MANE Select | ENSP00000369647.3:n.322+62_322+63insCCGG | |
NM_000490.4:c.322+62_322+63insCCGG , LRG_715t1:c.322+62_322+63insCCGG | NP_000481.2:n.322+62_322+63insCCGG | |
XM_011529267.1:c.322+62_322+63insCCGG | XP_011527569.1:n.322+62_322+63insCCGG | |
XM_011529267.2:c.322+62_322+63insCCGG | XP_011527569.1:n.322+62_322+63insCCGG | |
NM_000490.5:c.322+62_322+63insCCGG MANE Select | NP_000481.2:n.322+62_322+63insCCGG |