Linked Data
dbSNP Id:
rs1603446566
gnomAD v2:
22-51135981-C-CCCGCGGCCCCG
gnomAD v3:
22-50697553-C-CCCGCGGCCCCG
gnomAD v4:
22-50697553-C-CCCGCGGCCCCG
MyVariant Identifiers:
chr22:g.51135981_51135982insCCGCGGCCCCG (hg19)
chr22:g.50697553_50697554insCCGCGGCCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697553_50697554insCCGCGGCCCCG , CM000684.2:g.50697553_50697554insCCGCGGCCCCG | GRCh38 |
| NC_000022.10:g.51135981_51135982insCCGCGGCCCCG , CM000684.1:g.51135981_51135982insCCGCGGCCCCG | GRCh37 |
| NC_000022.9:g.49482847_49482848insCCGCGGCCCCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-11_948-10insCCGCGGCCCCG | ENSP00000489147.2:n.948-11_948-10insCCGCGGCCCCG | |
| ENST00000414786.7:n.1532-11_1532-10insCCGCGGCCCCG | ||
| ENST00000673971.2:c.1305-11_1305-10insCCGCGGCCCCG | ENSP00000501192.1:n.1305-11_1305-10insCCGCGGCCCCG | |
| ENST00000262795.6:c.948-11_948-10insCCGCGGCCCCG | ENSP00000489147.2:n.948-11_948-10insCCGCGGCCCCG | |
| ENST00000673971.1:c.1305-11_1305-10insCCGCGGCCCCG | ENSP00000501192.1:n.1305-11_1305-10insCCGCGGCCCCG | |
| ENST00000262795.5:c.1345-12_1345-11insCCGCGGCCCCG | ENSP00000489147.1:n.1345-12_1345-11insCCGCGGCCCCG | |
| ENST00000414786.6:n.1532-11_1532-10insCCGCGGCCCCG | ||
| ENST00000445220.5:c.1326-11_1326-10insCCGCGGCCCCG | ENSP00000489407.1:n.1326-11_1326-10insCCGCGGCCCCG |