HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516325_52516326insCC , CM000674.2:g.52516325_52516326insCC | GRCh38 |
NC_000012.11:g.52910109_52910110insCC , CM000674.1:g.52910109_52910110insCC | GRCh37 |
NC_000012.10:g.51196376_51196377insCC | NCBI36 |
NG_008297.1:g.9134_9135insGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+311_1439+312insGG MANE Select | ENSP00000252242.4:n.1439+311_1439+312insGG | |
ENST00000252242.8:c.1439+311_1439+312insGG | ENSP00000252242.4:n.1439+311_1439+312insGG | |
ENST00000548409.5:c.561+311_561+312insGG | ||
ENST00000549511.5:n.646+311_646+312insGG | ||
ENST00000552629.5:n.1848_1849insGG | ||
NM_000424.3:c.1439+311_1439+312insGG | NP_000415.2:n.1439+311_1439+312insGG | |
NM_000424.4:c.1439+311_1439+312insGG MANE Select | NP_000415.2:n.1439+311_1439+312insGG |