Linked Data
gnomAD v3:
16-68805309-C-CACGCCTGGCCCAGGATACAGTGATGATG
gnomAD v4:
16-68805309-C-CACGCCTGGCCCAGGATACAGTGATGATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68805309_68805310insACGCCTGGCCCAGGATACAGTGATGATG , CM000678.2:g.68805309_68805310insACGCCTGGCCCAGGATACAGTGATGATG | GRCh38 |
| NC_000016.9:g.68839212_68839213insACGCCTGGCCCAGGATACAGTGATGATG , CM000678.1:g.68839212_68839213insACGCCTGGCCCAGGATACAGTGATGATG | GRCh37 |
| NC_000016.8:g.67396713_67396714insACGCCTGGCCCAGGATACAGTGATGATG | NCBI36 |
| NG_008021.1:g.73018_73019insACGCCTGGCCCAGGATACAGTGATGATG , LRG_301:g.73018_73019insACGCCTGGCCCAGGATACAGTGATGATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG MANE Select | ENSP00000261769.4:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000261769.9:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000261769.4:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000422392.6:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000414946.2:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000561751.1:c.155-3115_155-3114insACGCCTGGCCCAGGATACAGTGATGATG | ||
| ENST00000562836.5:n.459-3115_459-3114insACGCCTGGCCCAGGATACAGTGATGATG | ||
| ENST00000564676.5:n.670-3115_670-3114insACGCCTGGCCCAGGATACAGTGATGATG | ||
| ENST00000564745.1:n.383-3115_383-3114insACGCCTGGCCCAGGATACAGTGATGATG | ||
| ENST00000566510.5:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000458139.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000566612.5:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000454782.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000611625.4:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000481063.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000612417.4:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000478360.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| ENST00000621016.4:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | ENSP00000480664.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGT... | |
| NM_004360.3:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG , LRG_301t1:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_004351.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGAT... | |
| XM_011523488.1:c.-348-3115_-348-3114insACGCCTGGCCCAGGATACAGTGATGATG | XP_011521790.1:n.-348-3115_-348-3114insACGCCTGGCCCAGGATACAGTG... | |
| XM_011523489.1:c.-348-3115_-348-3114insACGCCTGGCCCAGGATACAGTGATGATG | XP_011521791.1:n.-348-3115_-348-3114insACGCCTGGCCCAGGATACAGTG... | |
| NM_001317184.1:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304113.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGAT... | |
| NM_001317185.1:c.-1228-3115_-1228-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304114.1:n.-1228-3115_-1228-3114insACGCCTGGCCCAGGATACAG... | |
| NM_001317186.1:c.-1432-3115_-1432-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304115.1:n.-1432-3115_-1432-3114insACGCCTGGCCCAGGATACAG... | |
| NM_004360.4:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_004351.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGAT... | |
| NM_004360.5:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG MANE Select | NP_004351.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGAT... | |
| NM_001317184.2:c.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304113.1:n.388-3115_388-3114insACGCCTGGCCCAGGATACAGTGAT... | |
| NM_001317185.2:c.-1228-3115_-1228-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304114.1:n.-1228-3115_-1228-3114insACGCCTGGCCCAGGATACAG... | |
| NM_001317186.2:c.-1432-3115_-1432-3114insACGCCTGGCCCAGGATACAGTGATGATG | NP_001304115.1:n.-1432-3115_-1432-3114insACGCCTGGCCCAGGATACAG... |