gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0007196 (AFR)
Genomes Max Group AF
0.0007196 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111530_91111533dup , CM000674.2:g.91111530_91111533dup | GRCh38 |
| NC_000012.11:g.91505307_91505310dup , CM000674.1:g.91505307_91505310dup | GRCh37 |
| NC_000012.10:g.90029438_90029441dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.4:c.-155_-152dup | ENSP00000266718.4:n.-155_-152dup | |
| NM_002345.3:c.-155_-152dup | NP_002336.1:n.-155_-152dup |