Linked Data
gnomAD v3:
22-50697540-C-CGCAGCCCCGCGGCCCCCCGGCA
gnomAD v4:
22-50697540-C-CGCAGCCCCGCGGCCCCCCGGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697540_50697541insGCAGCCCCGCGGCCCCCCGGCA , CM000684.2:g.50697540_50697541insGCAGCCCCGCGGCCCCCCGGCA | GRCh38 |
| NC_000022.10:g.51135968_51135969insGCAGCCCCGCGGCCCCCCGGCA , CM000684.1:g.51135968_51135969insGCAGCCCCGCGGCCCCCCGGCA | GRCh37 |
| NC_000022.9:g.49482834_49482835insGCAGCCCCGCGGCCCCCCGGCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-24_948-23insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000489147.2:n.948-24_948-23insGCAGCCCCGCGGCCCCCCGGCA | |
| ENST00000414786.7:n.1532-24_1532-23insGCAGCCCCGCGGCCCCCCGGCA | ||
| ENST00000673971.2:c.1305-24_1305-23insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000501192.1:n.1305-24_1305-23insGCAGCCCCGCGGCCCCCCGGCA | |
| ENST00000262795.6:c.948-24_948-23insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000489147.2:n.948-24_948-23insGCAGCCCCGCGGCCCCCCGGCA | |
| ENST00000673971.1:c.1305-24_1305-23insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000501192.1:n.1305-24_1305-23insGCAGCCCCGCGGCCCCCCGGCA | |
| ENST00000262795.5:c.1345-25_1345-24insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000489147.1:n.1345-25_1345-24insGCAGCCCCGCGGCCCCCCGGCA | |
| ENST00000414786.6:n.1532-24_1532-23insGCAGCCCCGCGGCCCCCCGGCA | ||
| ENST00000445220.5:c.1326-24_1326-23insGCAGCCCCGCGGCCCCCCGGCA | ENSP00000489407.1:n.1326-24_1326-23insGCAGCCCCGCGGCCCCCCGGCA |