gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001299 (NFE)
Exomes Max Group AF
0.00001296 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732964del , CM000663.2:g.115732964del | GRCh38 |
| NC_000001.10:g.116275585del , CM000663.1:g.116275585del | GRCh37 |
| NC_000001.9:g.116077108del | NCBI36 |
| NG_008802.1:g.40845del , LRG_404:g.40845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.270del | ENSP00000518226.1:p.Phe90LeufsTer28 | |
| ENST00000261448.6:c.546del MANE Select | ENSP00000261448.5:p.Phe182LeufsTer28 | |
| ENST00000261448.5:c.546del | ENSP00000261448.5:p.Phe182LeufsTer28 | |
| NM_001232.3:c.546del , LRG_404t1:c.546del | NP_001223.2:p.Phe182LeufsTer28 | |
| NM_001232.4:c.546del MANE Select | NP_001223.2:p.Phe182LeufsTer28 |