Linked Data
gnomAD v4:
20-3082893-G-GCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082894_3082895insGCCC , CM000682.2:g.3082894_3082895insGCCC | GRCh38 |
| NC_000020.10:g.3063540_3063541insGCCC , CM000682.1:g.3063540_3063541insGCCC | GRCh37 |
| NC_000020.9:g.3011540_3011541insGCCC | NCBI36 |
| NG_008663.1:g.6831_6832insGGCG , LRG_715:g.6831_6832insGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.322+83_322+84insGGCG MANE Select | ENSP00000369647.3:n.322+83_322+84insGGCG | |
| NM_000490.4:c.322+83_322+84insGGCG , LRG_715t1:c.322+83_322+84insGGCG | NP_000481.2:n.322+83_322+84insGGCG | |
| XM_011529267.1:c.322+83_322+84insGGCG | XP_011527569.1:n.322+83_322+84insGGCG | |
| XM_011529267.2:c.322+83_322+84insGGCG | XP_011527569.1:n.322+83_322+84insGGCG | |
| NM_000490.5:c.322+83_322+84insGGCG MANE Select | NP_000481.2:n.322+83_322+84insGGCG |