HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47286384_47286386delinsGGT , CM000679.2:g.47286384_47286386delinsGGT | GRCh38 |
NC_000017.10:g.45363750_45363752delinsGGT , CM000679.1:g.45363750_45363752delinsGGT | GRCh37 |
NC_000017.9:g.42718749_42718751delinsGGT | NCBI36 |
NG_008332.2:g.37543_37545delinsGGT , LRG_481:g.37543_37545delinsGGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.739_741delinsGGT | ENSP00000513002.1:p.Gly247= | |
ENST00000559488.7:c.739_741delinsGGT MANE Select | ENSP00000452786.2:p.Gly247= | |
ENST00000559488.5:c.739_741delinsGGT | ENSP00000452786.1:p.Gly247= | |
ENST00000560629.1:c.704_706delinsGGT | ||
ENST00000571680.1:c.739_741delinsGGT | ENSP00000461626.1:p.Gly247= | |
NM_000212.2:c.739_741delinsGGT , LRG_481t1:c.739_741delinsGGT | NP_000203.2:p.Gly247= | |
NM_000212.3:c.739_741delinsGGT MANE Select | NP_000203.2:p.Gly247= |