gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009227 (SAS)
Exomes Max Group AF
0.00009827 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43361218_43361221del , CM000663.2:g.43361218_43361221del | GRCh38 |
| NC_000001.10:g.43826889_43826892del , CM000663.1:g.43826889_43826892del | GRCh37 |
| NC_000001.9:g.43599476_43599479del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310955.11:c.1176_1179del MANE Select | ENSP00000308450.5:p.Cys392Ter | |
| ENST00000310955.10:c.1176_1179del | ENSP00000308450.5:p.Cys392Ter | |
| ENST00000372462.1:c.1176_1179del | ENSP00000361540.1:p.Cys392Ter | |
| ENST00000482046.1:n.161_164del | ||
| NM_001255.2:c.1176_1179del | NP_001246.2:p.Cys392Ter | |
| NM_001255.3:c.1176_1179del MANE Select | NP_001246.2:p.Cys392Ter |