ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0021619 (EAS)
Genomes Max Group AF
0.0011914 (EAS)
Exomes Max Group AF
0.00218856 (EAS)
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171108185_171108186del , CM000663.2:g.171108185_171108186del | GRCh38 |
| NC_000001.10:g.171077326_171077327del , CM000663.1:g.171077326_171077327del | GRCh37 |
| NC_000001.9:g.169343950_169343951del | NCBI36 |
| NG_012690.1:g.22309_22310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.591_592del MANE Select | ENSP00000356729.4:p.Cys197Ter | |
| ENST00000367755.8:c.591_592del | ENSP00000356729.4:p.Cys197Ter | |
| ENST00000479749.1:c.537_538del | ENSP00000477451.1:p.Cys179Ter | |
| NM_001002294.2:c.591_592del | NP_001002294.1:p.Cys197Ter | |
| NM_006894.5:c.591_592del | NP_008825.4:p.Cys197Ter | |
| XM_005245044.1:c.402_403del | XP_005245101.1:p.Cys134Ter | |
| XM_011509345.1:c.531_532del | XP_011507647.1:p.Cys177Ter | |
| XM_011509346.1:c.531_532del | XP_011507648.1:p.Cys177Ter | |
| NM_001319173.1:c.531_532del | NP_001306102.1:p.Cys177Ter | |
| NM_001319174.1:c.402_403del | NP_001306103.1:p.Cys134Ter | |
| XM_011509345.3:c.531_532del | XP_011507647.1:p.Cys177Ter | |
| XM_024454365.1:c.44_45del | XP_024310133.1:p.Val15AspfsTer21 | |
| NM_001002294.3:c.591_592del MANE Select | NP_001002294.1:p.Cys197Ter | |
| NM_001319173.2:c.531_532del | NP_001306102.1:p.Cys177Ter | |
| NM_001319174.2:c.402_403del | NP_001306103.1:p.Cys134Ter | |
| NM_006894.6:c.591_592del | NP_008825.4:p.Cys197Ter |