gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604593del , CM000671.2:g.6604593del | GRCh38 |
| NC_000009.11:g.6604593del , CM000671.1:g.6604593del | GRCh37 |
| NC_000009.10:g.6594593del | NCBI36 |
| NG_016397.1:g.46101del , LRG_643:g.46101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1054del MANE Select | ENSP00000370737.4:p.Thr352GlnfsTer? | |
| ENST00000638654.1:c.301del | ENSP00000491101.1:p.Thr101GlnfsTer? | |
| ENST00000639364.1:n.754del | ||
| ENST00000639443.1:n.622del | ||
| ENST00000639493.1:n.206del | ||
| ENST00000639954.1:n.762del | ||
| ENST00000640592.1:n.937del | ||
| ENST00000321612.6:c.1054del | ENSP00000370737.3:p.Thr352GlnfsTer? | |
| ENST00000463305.1:n.142+539del | ||
| NM_000170.2:c.1054del , LRG_643t1:c.1054del | NP_000161.2:p.Thr352GlnfsTer? | |
| NM_000170.3:c.1054del MANE Select | NP_000161.2:p.Thr352GlnfsTer? |