Linked Data
gnomAD v3:
22-50697562-T-TGAGGCCGGCGGCGGGGCCGGGCCCCG
gnomAD v4:
22-50697562-T-TGAGGCCGGCGGCGGGGCCGGGCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697562_50697563insGAGGCCGGCGGCGGGGCCGGGCCCCG , CM000684.2:g.50697562_50697563insGAGGCCGGCGGCGGGGCCGGGCCCCG | GRCh38 |
| NC_000022.10:g.51135990_51135991insGAGGCCGGCGGCGGGGCCGGGCCCCG , CM000684.1:g.51135990_51135991insGAGGCCGGCGGCGGGGCCGGGCCCCG | GRCh37 |
| NC_000022.9:g.49482856_49482857insGAGGCCGGCGGCGGGGCCGGGCCCCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000489147.2:n.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | |
| ENST00000414786.7:n.1532-2_1532-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ||
| ENST00000673971.2:c.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000501192.1:n.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCC... | |
| ENST00000262795.6:c.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000489147.2:n.948-2_948-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | |
| ENST00000673971.1:c.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000501192.1:n.1305-2_1305-1insGAGGCCGGCGGCGGGGCCGGGCCCC... | |
| ENST00000262795.5:c.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000489147.1:n.1345-3_1345-2insGAGGCCGGCGGCGGGGCCGGGCCCC... | |
| ENST00000414786.6:n.1532-2_1532-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ||
| ENST00000445220.5:c.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGGGCCCCG | ENSP00000489407.1:n.1326-2_1326-1insGAGGCCGGCGGCGGGGCCGGGCCCC... |