gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188952_20188953del , CM000675.2:g.20188952_20188953del | GRCh38 |
| NC_000013.10:g.20763091_20763092del , CM000675.1:g.20763091_20763092del | GRCh37 |
| NC_000013.9:g.19661091_19661092del | NCBI36 |
| NG_008358.1:g.9026_9027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.632_633del | ENSP00000372295.1:p.Cys211LeufsTer5 | |
| ENST00000382848.5:c.632_633del MANE Select | ENSP00000372299.4:p.Cys211LeufsTer5 | |
| ENST00000382844.1:c.632_633del | ENSP00000372295.1:p.Cys211LeufsTer5 | |
| ENST00000382848.4:c.632_633del | ENSP00000372299.4:p.Cys211LeufsTer5 | |
| NM_004004.5:c.632_633del | NP_003995.2:p.Cys211LeufsTer5 | |
| XM_011535049.1:c.632_633del | XP_011533351.1:p.Cys211LeufsTer5 | |
| XM_011535049.2:c.632_633del | XP_011533351.1:p.Cys211LeufsTer5 | |
| NM_004004.6:c.632_633del MANE Select | NP_003995.2:p.Cys211LeufsTer5 |