Linked Data
dbSNP Id:
rs1830592636
gnomAD v3:
9-97851935-G-GCCAGCCC
gnomAD v4:
9-97851935-G-GCCAGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851937_97851938insAGCCCCC , CM000671.2:g.97851937_97851938insAGCCCCC | GRCh38 |
| NC_000009.11:g.100614219_100614220insAGCCCCC , CM000671.1:g.100614219_100614220insAGCCCCC | GRCh37 |
| NC_000009.10:g.99654040_99654041insAGCCCCC | NCBI36 |
| NG_011979.1:g.3683_3684insAGCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+940_218+941insGGGCTGG | ||
| XR_930159.1:n.218+940_218+941insGGGCTGG | ||
| XR_930160.1:n.218+940_218+941insGGGCTGG | ||
| XR_930161.1:n.218+940_218+941insGGGCTGG | ||
| NR_147055.1:n.165+980_165+981insGGGCTGG |