Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962947_19962948insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA , CM000670.2:g.19962947_19962948insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | GRCh38 |
| NC_000008.10:g.19820458_19820459insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA , CM000670.1:g.19820458_19820459insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | GRCh37 |
| NC_000008.9:g.19864738_19864739insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | NCBI36 |
| NG_008855.1:g.28877_28878insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | |
| NG_008855.2:g.66231_66232insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+728_1427+729insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA MANE Select | ENSP00000497642.1:n.1427+728_1427+729insG... | |
| ENST00000650478.1:c.367+728_367+729insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | ENSP00000497560.1:n.367+728_367+729insGTG... | |
| ENST00000311322.8:c.1427+728_1427+729insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | ENSP00000309757.6:n.1427+728_1427+729insG... | |
| NM_000237.2:c.1427+728_1427+729insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA | NP_000228.1:n.1427+728_1427+729insGTGAAGG... | |
| NM_000237.3:c.1427+728_1427+729insGTGAAGGTCACATGCTTAGTGACCTTCACTACTCCTGTTCTGAATTCCAGGAATA MANE Select | NP_000228.1:n.1427+728_1427+729insGTGAAGG... |