Linked Data
gnomAD v4:
21-45984498-C-CGTGAGAACTGGCGTGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984498_45984499insGTGAGAACTGGCGTGGG , CM000683.2:g.45984498_45984499insGTGAGAACTGGCGTGGG | GRCh38 |
| NC_000021.8:g.47404412_47404413insGTGAGAACTGGCGTGGG , CM000683.1:g.47404412_47404413insGTGAGAACTGGCGTGGG | GRCh37 |
| NC_000021.7:g.46228840_46228841insGTGAGAACTGGCGTGGG | NCBI36 |
| NG_008674.1:g.7750_7751insGTGAGAACTGGCGTGGG , LRG_475:g.7750_7751insGTGAGAACTGGCGTGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+29_428+30insGTGAGAACTGGCGTGGG MANE Select | ENSP00000355180.3:n.428+29_428+30insGTGAGAACTGGCGTGGG | |
| ENST00000361866.7:c.428+29_428+30insGTGAGAACTGGCGTGGG | ENSP00000355180.3:n.428+29_428+30insGTGAGAACTGGCGTGGG | |
| ENST00000612273.1:c.428+29_428+30insGTGAGAACTGGCGTGGG | ENSP00000483630.1:n.428+29_428+30insGTGAGAACTGGCGTGGG | |
| NM_001848.2:c.428+29_428+30insGTGAGAACTGGCGTGGG , LRG_475t1:c.428+29_428+30insGTGAGAACTGGCGTGGG | NP_001839.2:n.428+29_428+30insGTGAGAACTGGCGTGGG | |
| NM_001848.3:c.428+29_428+30insGTGAGAACTGGCGTGGG MANE Select | NP_001839.2:n.428+29_428+30insGTGAGAACTGGCGTGGG |