gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005275 (NFE)
Genomes Max Group AF
0.00007908 (NFE)
Exomes Max Group AF
0.00004787 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660728del , CM000669.2:g.152660728del | GRCh38 |
| NC_000007.13:g.152357813del , CM000669.1:g.152357813del | GRCh37 |
| NC_000007.12:g.151988746del | NCBI36 |
| NG_027988.1:g.20440del | |
| NG_027988.2:g.20440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11363del | ENSP00000513758.1:n.-47-11363del | |
| ENST00000698507.1:n.164del | ||
| ENST00000359321.2:c.96del MANE Select | ENSP00000352271.1:p.Phe32LeufsTer30 | |
| ENST00000359321.1:c.96del | ENSP00000352271.1:p.Phe32LeufsTer30 | |
| ENST00000495707.1:n.118del | ||
| NM_005431.1:c.96del | NP_005422.1:p.Phe32LeufsTer30 | |
| NM_005431.2:c.96del MANE Select | NP_005422.1:p.Phe32LeufsTer30 |