Linked Data
gnomAD v3:
22-50697552-T-TGCCCCGCGGCCCCGGCCC
gnomAD v4:
22-50697552-T-TGCCCCGCGGCCCCGGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697552_50697553insGCCCCGCGGCCCCGGCCC , CM000684.2:g.50697552_50697553insGCCCCGCGGCCCCGGCCC | GRCh38 |
| NC_000022.10:g.51135980_51135981insGCCCCGCGGCCCCGGCCC , CM000684.1:g.51135980_51135981insGCCCCGCGGCCCCGGCCC | GRCh37 |
| NC_000022.9:g.49482846_49482847insGCCCCGCGGCCCCGGCCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-12_948-11insGCCCCGCGGCCCCGGCCC | ENSP00000489147.2:n.948-12_948-11insGCCCCGCGGCCCCGGCCC | |
| ENST00000414786.7:n.1532-12_1532-11insGCCCCGCGGCCCCGGCCC | ||
| ENST00000673971.2:c.1305-12_1305-11insGCCCCGCGGCCCCGGCCC | ENSP00000501192.1:n.1305-12_1305-11insGCCCCGCGGCCCCGGCCC | |
| ENST00000262795.6:c.948-12_948-11insGCCCCGCGGCCCCGGCCC | ENSP00000489147.2:n.948-12_948-11insGCCCCGCGGCCCCGGCCC | |
| ENST00000673971.1:c.1305-12_1305-11insGCCCCGCGGCCCCGGCCC | ENSP00000501192.1:n.1305-12_1305-11insGCCCCGCGGCCCCGGCCC | |
| ENST00000262795.5:c.1345-13_1345-12insGCCCCGCGGCCCCGGCCC | ENSP00000489147.1:n.1345-13_1345-12insGCCCCGCGGCCCCGGCCC | |
| ENST00000414786.6:n.1532-12_1532-11insGCCCCGCGGCCCCGGCCC | ||
| ENST00000445220.5:c.1326-12_1326-11insGCCCCGCGGCCCCGGCCC | ENSP00000489407.1:n.1326-12_1326-11insGCCCCGCGGCCCCGGCCC |