Genomic Alleles
| 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 |
Transcript Alleles
| 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= |