Linked Data
gnomAD v3:
22-50697550-A-AGCCCCGCGGCCCCGGCCCCGCG
gnomAD v4:
22-50697550-A-AGCCCCGCGGCCCCGGCCCCGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697550_50697551insGCCCCGCGGCCCCGGCCCCGCG , CM000684.2:g.50697550_50697551insGCCCCGCGGCCCCGGCCCCGCG | GRCh38 |
| NC_000022.10:g.51135978_51135979insGCCCCGCGGCCCCGGCCCCGCG , CM000684.1:g.51135978_51135979insGCCCCGCGGCCCCGGCCCCGCG | GRCh37 |
| NC_000022.9:g.49482844_49482845insGCCCCGCGGCCCCGGCCCCGCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-14_948-13insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000489147.2:n.948-14_948-13insGCCCCGCGGCCCCGGCCCCGCG | |
| ENST00000414786.7:n.1532-14_1532-13insGCCCCGCGGCCCCGGCCCCGCG | ||
| ENST00000673971.2:c.1305-14_1305-13insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000501192.1:n.1305-14_1305-13insGCCCCGCGGCCCCGGCCCCGCG | |
| ENST00000262795.6:c.948-14_948-13insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000489147.2:n.948-14_948-13insGCCCCGCGGCCCCGGCCCCGCG | |
| ENST00000673971.1:c.1305-14_1305-13insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000501192.1:n.1305-14_1305-13insGCCCCGCGGCCCCGGCCCCGCG | |
| ENST00000262795.5:c.1345-15_1345-14insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000489147.1:n.1345-15_1345-14insGCCCCGCGGCCCCGGCCCCGCG | |
| ENST00000414786.6:n.1532-14_1532-13insGCCCCGCGGCCCCGGCCCCGCG | ||
| ENST00000445220.5:c.1326-14_1326-13insGCCCCGCGGCCCCGGCCCCGCG | ENSP00000489407.1:n.1326-14_1326-13insGCCCCGCGGCCCCGGCCCCGCG |