Linked Data
dbSNP Id:
rs2083089638
gnomAD v3:
22-50697547-C-CCCGCGGCCCCG
gnomAD v4:
22-50697547-C-CCCGCGGCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697547_50697548insCCGCGGCCCCG , CM000684.2:g.50697547_50697548insCCGCGGCCCCG | GRCh38 |
| NC_000022.10:g.51135975_51135976insCCGCGGCCCCG , CM000684.1:g.51135975_51135976insCCGCGGCCCCG | GRCh37 |
| NC_000022.9:g.49482841_49482842insCCGCGGCCCCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-17_948-16insCCGCGGCCCCG | ENSP00000489147.2:n.948-17_948-16insCCGCGGCCCCG | |
| ENST00000414786.7:n.1532-17_1532-16insCCGCGGCCCCG | ||
| ENST00000673971.2:c.1305-17_1305-16insCCGCGGCCCCG | ENSP00000501192.1:n.1305-17_1305-16insCCGCGGCCCCG | |
| ENST00000262795.6:c.948-17_948-16insCCGCGGCCCCG | ENSP00000489147.2:n.948-17_948-16insCCGCGGCCCCG | |
| ENST00000673971.1:c.1305-17_1305-16insCCGCGGCCCCG | ENSP00000501192.1:n.1305-17_1305-16insCCGCGGCCCCG | |
| ENST00000262795.5:c.1345-18_1345-17insCCGCGGCCCCG | ENSP00000489147.1:n.1345-18_1345-17insCCGCGGCCCCG | |
| ENST00000414786.6:n.1532-17_1532-16insCCGCGGCCCCG | ||
| ENST00000445220.5:c.1326-17_1326-16insCCGCGGCCCCG | ENSP00000489407.1:n.1326-17_1326-16insCCGCGGCCCCG |