Linked Data
dbSNP Id:
rs147312520
MyVariant Identifiers:
chr20:g.2451402_2451403insCCCCCCCC (hg19)
chr20:g.2470756_2470757insCCCCCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470757_2470758insCCCCCCCC , CM000682.2:g.2470757_2470758insCCCCCCCC | GRCh38 |
| NC_000020.10:g.2451403_2451404insCCCCCCCC , CM000682.1:g.2451403_2451404insCCCCCCCC | GRCh37 |
| NC_000020.9:g.2399403_2399404insCCCCCCCC | NCBI36 |
| NG_042057.1:g.5097_5098insGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688423.1:n.31_32insGGGGGGGG | ||
| ENST00000688775.1:n.31_32insGGGGGGGG | ||
| ENST00000689440.1:n.33_34insGGGGGGGG | ||
| ENST00000693393.1:n.33_34insGGGGGGGG | ||
| ENST00000381342.7:c.-67_-66insGGGGGGGG MANE Select | ENSP00000370746.3:n.-67_-66insGGGGGGGG | |
| ENST00000339610.10:c.-67_-66insGGGGGGGG | ENSP00000342305.7:n.-67_-66insGGGGGGGG | |
| ENST00000381342.6:c.-67_-66insGGGGGGGG | ENSP00000370746.2:n.-67_-66insGGGGGGGG | |
| ENST00000438552.6:c.-67_-66insGGGGGGGG | ENSP00000412566.2:n.-67_-66insGGGGGGGG | |
| ENST00000461548.1:c.305-2999_305-2998insGGGGGGGG | ENSP00000456213.1:n.305-2999_305-2998insGGGGGGGG | |
| NM_003091.3:c.-67_-66insGGGGGGGG | NP_003082.1:n.-67_-66insGGGGGGGG | |
| NM_198216.1:c.-67_-66insGGGGGGGG | NP_937859.1:n.-67_-66insGGGGGGGG | |
| NM_003091.4:c.-67_-66insGGGGGGGG MANE Select | NP_003082.1:n.-67_-66insGGGGGGGG | |
| NM_198216.2:c.-67_-66insGGGGGGGG | NP_937859.1:n.-67_-66insGGGGGGGG |