Linked Data
gnomAD v3:
12-51955287-C-CGGGGGGGGGGGGGGGGGGG
gnomAD v4:
12-51955287-C-CGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51955287_51955288insGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51955287_51955288insGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000012.11:g.52349071_52349072insGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52349071_52349072insGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000012.10:g.50635338_50635339insGGGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_022926.1:g.8621_8622insGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257963.9:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000257963.4:n.91+3453_91+3454insGGG... | |
| ENST00000257963.8:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | ENSP00000257963.4:n.91+3453_91+3454insGGG... | |
| ENST00000415850.6:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | ENSP00000397550.2:n.91+3453_91+3454insGGG... | |
| ENST00000426655.6:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | ENSP00000390477.2:n.91+3453_91+3454insGGG... | |
| ENST00000536420.5:c.-198+3453_-198+3454insGGGGGGGGGGGGGGGGGGG | ENSP00000443218.1:n.-198+3453_-198+3454in... | |
| ENST00000541224.5:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | ENSP00000442656.1:n.91+3453_91+3454insGGG... | |
| ENST00000542485.1:c.-66+1788_-66+1789insGGGGGGGGGGGGGGGGGGG | ENSP00000442885.1:n.-66+1788_-66+1789insG... | |
| NM_004302.4:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | NP_004293.1:n.91+3453_91+3454insGGGGGGGGG... | |
| NM_020327.3:c.-66+1788_-66+1789insGGGGGGGGGGGGGGGGGGG | NP_064732.3:n.-66+1788_-66+1789insGGGGGGG... | |
| NM_020328.3:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | NP_064733.3:n.91+3453_91+3454insGGGGGGGGG... | |
| XM_011538966.1:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | XP_011537268.1:n.91+3453_91+3454insGGGGGG... | |
| XM_011538967.1:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | XP_011537269.1:n.91+3453_91+3454insGGGGGG... | |
| XM_011538966.3:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | XP_011537268.1:n.91+3453_91+3454insGGGGGG... | |
| XM_011538967.3:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | XP_011537269.1:n.91+3453_91+3454insGGGGGG... | |
| XM_017020201.2:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | XP_016875690.1:n.91+3453_91+3454insGGGGGG... | |
| NM_004302.5:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG MANE Select | NP_004293.1:n.91+3453_91+3454insGGGGGGGGG... | |
| NM_020328.4:c.91+3453_91+3454insGGGGGGGGGGGGGGGGGGG | NP_064733.3:n.91+3453_91+3454insGGGGGGGGG... | |
| NM_020327.4:c.-66+1788_-66+1789insGGGGGGGGGGGGGGGGGGG | NP_064732.3:n.-66+1788_-66+1789insGGGGGGG... |