MyVariant.info:
gnomAD v4:
Joint Max Group AF
7.4e-7 (NFE)
Exomes Max Group AF
7.9e-7 (NFE)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356443_133356466del , CM000671.2:g.133356443_133356466del | GRCh38 |
| NC_000009.10:g.135213140_135213163del | NCBI36 |
| NG_008477.1:g.5022_5045del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.-11_13del | ||
| ENST00000371974.7:c.-11_13del | ||
| ENST00000463965.1:n.213_236del | ||
| ENST00000615505.4:c.-286_-263del | ENSP00000482067.1:n.-286_-263del | |
| NM_001280787.1:c.-286_-263del | NP_001267716.1:n.-286_-263del | |
| NM_003172.3:c.-11_13del | ||
| NM_003172.4:c.-11_13del |