gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034571 (AMR)
Genomes Max Group AF
0.000053 (AMR)
Exomes Max Group AF
0.00043831 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70174864_70174865del , CM000679.2:g.70174864_70174865del | GRCh38 |
| NC_000017.10:g.68171005_68171006del , CM000679.1:g.68171005_68171006del | GRCh37 |
| NC_000017.9:g.65682600_65682601del | NCBI36 |
| NG_008798.1:g.10330_10331del , LRG_328:g.10330_10331del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.-176_-175del MANE Select | ENSP00000243457.2:n.-176_-175del | |
| ENST00000243457.3:c.-176_-175del | ENSP00000243457.2:n.-176_-175del | |
| ENST00000535240.1:c.-176_-175del | ENSP00000441848.1:n.-176_-175del | |
| NM_000891.2:c.-176_-175del , LRG_328t1:c.-176_-175del | NP_000882.1:n.-176_-175del | |
| XM_011524779.1:c.-176_-175del | XP_011523081.1:n.-176_-175del | |
| NM_000891.3:c.-176_-175del MANE Select | NP_000882.1:n.-176_-175del |