Linked Data
gnomAD v3:
22-50697496-C-CTGCGGCGGCGGCTGCGGTGAGGCCGGCG
gnomAD v4:
22-50697496-C-CTGCGGCGGCGGCTGCGGTGAGGCCGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697496_50697497insTGCGGCGGCGGCTGCGGTGAGGCCGGCG , CM000684.2:g.50697496_50697497insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | GRCh38 |
| NC_000022.10:g.51135924_51135925insTGCGGCGGCGGCTGCGGTGAGGCCGGCG , CM000684.1:g.51135924_51135925insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | GRCh37 |
| NC_000022.9:g.49482790_49482791insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | NCBI36 |
| NG_008607.2:g.27855_27856insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | |
| NG_070230.1:g.33074_33075insTGCGGCGGCGGCTGCGGTGAGGCCGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-68_948-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000489147.2:n.948-68_948-67insTGCGGCGGCGGCTGCGGTGAGGCCG... | |
| ENST00000414786.7:n.1532-68_1532-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ||
| ENST00000673971.2:c.1305-68_1305-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000501192.1:n.1305-68_1305-67insTGCGGCGGCGGCTGCGGTGAGGC... | |
| ENST00000262795.6:c.948-68_948-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000489147.2:n.948-68_948-67insTGCGGCGGCGGCTGCGGTGAGGCCG... | |
| ENST00000673971.1:c.1305-68_1305-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000501192.1:n.1305-68_1305-67insTGCGGCGGCGGCTGCGGTGAGGC... | |
| ENST00000262795.5:c.1345-69_1345-68insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000489147.1:n.1345-69_1345-68insTGCGGCGGCGGCTGCGGTGAGGC... | |
| ENST00000414786.6:n.1532-68_1532-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ||
| ENST00000445220.5:c.1326-68_1326-67insTGCGGCGGCGGCTGCGGTGAGGCCGGCG | ENSP00000489407.1:n.1326-68_1326-67insTGCGGCGGCGGCTGCGGTGAGGC... |