Linked Data
dbSNP Id:
rs66806500
gnomAD v3:
9-97851935-G-GCCCCCCCCCCCCCCCCC
gnomAD v4:
9-97851935-G-GCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851938_97851939insCCCCCCCCCCCCCCCCC , CM000671.2:g.97851938_97851939insCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000009.11:g.100614220_100614221insCCCCCCCCCCCCCCCCC , CM000671.1:g.100614220_100614221insCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000009.10:g.99654041_99654042insCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_011979.1:g.3684_3685insCCCCCCCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+940_218+941insGGGGGGGGGGGGGGGGG | ||
| XR_930159.1:n.218+940_218+941insGGGGGGGGGGGGGGGGG | ||
| XR_930160.1:n.218+940_218+941insGGGGGGGGGGGGGGGGG | ||
| XR_930161.1:n.218+940_218+941insGGGGGGGGGGGGGGGGG | ||
| NR_147055.1:n.165+980_165+981insGGGGGGGGGGGGGGGGG |