gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009327 (NFE)
Genomes Max Group AF
0.00009336 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.624389_624390insG , CM000685.2:g.624389_624390insG | GRCh38 |
| NC_000023.10:g.585124_585125insG , CM000685.1:g.585124_585125insG | GRCh37 |
| NC_000023.9:g.505124_505125insG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334060.8:c.-646_-645insG | ENSP00000335505.3:n.-646_-645insG | |
| ENST00000381578.6:c.-646_-645insG | ENSP00000370990.1:n.-646_-645insG |