MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008841 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00008676 (NFE)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352708_133352709insCAGG , CM000671.2:g.133352708_133352709insCAGG | GRCh38 |
| NC_000009.10:g.135209384_135209385insCAGG | NCBI36 |
| NG_008477.1:g.8799_8800insCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.574_575insCTGC MANE Select | ENSP00000361042.3:p.Arg192ProfsTer8 | |
| ENST00000371974.7:c.574_575insCTGC | ENSP00000361042.3:p.Arg192ProfsTer8 | |
| ENST00000437995.1:n.484_485insCTGC | ||
| ENST00000495952.5:n.564_565insCTGC | ||
| ENST00000615505.4:c.247_248insCTGC | ENSP00000482067.1:p.Arg83ProfsTer8 | |
| NM_001280787.1:c.247_248insCTGC | NP_001267716.1:p.Arg83ProfsTer8 | |
| NM_003172.3:c.574_575insCTGC | NP_003163.1:p.Arg192ProfsTer8 | |
| XM_011518942.1:c.247_248insCTGC | XP_011517244.1:p.Arg83ProfsTer8 | |
| NM_003172.4:c.574_575insCTGC MANE Select | NP_003163.1:p.Arg192ProfsTer8 |