gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016628 (AMR)
Genomes Max Group AF
0.00005289 (AMR)
Exomes Max Group AF
0.00017148 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188934_20188937del , CM000675.2:g.20188934_20188937del | GRCh38 |
| NC_000013.10:g.20763073_20763076del , CM000675.1:g.20763073_20763076del | GRCh37 |
| NC_000013.9:g.19661073_19661076del | NCBI36 |
| NG_008358.1:g.9041_9044del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.647_650del | ENSP00000372295.1:p.Arg216IlefsTer17 | |
| ENST00000382848.5:c.647_650del MANE Select | ENSP00000372299.4:p.Arg216IlefsTer17 | |
| ENST00000382844.1:c.647_650del | ENSP00000372295.1:p.Arg216IlefsTer17 | |
| ENST00000382848.4:c.647_650del | ENSP00000372299.4:p.Arg216IlefsTer17 | |
| NM_004004.5:c.647_650del | NP_003995.2:p.Arg216IlefsTer17 | |
| XM_011535049.1:c.647_650del | XP_011533351.1:p.Arg216IlefsTer17 | |
| XM_011535049.2:c.647_650del | XP_011533351.1:p.Arg216IlefsTer17 | |
| NM_004004.6:c.647_650del MANE Select | NP_003995.2:p.Arg216IlefsTer17 |