gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010201 (AMR)
Exomes Max Group AF
0.00012059 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847290_11847291del , CM000663.2:g.11847290_11847291del | GRCh38 |
| NC_000001.10:g.11907347_11907348del , CM000663.1:g.11907347_11907348del | GRCh37 |
| NC_000001.9:g.11829934_11829935del | NCBI36 |
| NG_012926.1:g.5498_5499del , LRG_751:g.5498_5499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-287_*1962-286del (CLCN6) | ENSP00000496938.1:n.*1962-287_*1962-286del | |
| ENST00000446542.5:n.782-144_782-143del (NPPA-AS1) | ||
| ENST00000376476.1:c.127_128del (NPPA) | ENSP00000365659.1:p.Asp43TrpfsTer13 | |
| ENST00000376480.7:c.277_278del (NPPA) MANE Select | ENSP00000365663.3:p.Asp93TrpfsTer13 | |
| ENST00000610706.1:c.277_278del (NPPA) | ENSP00000483195.1:p.Asp93TrpfsTer13 | |
| NM_006172.3:c.277_278del , LRG_751t1:c.277_278del (NPPA) | NP_006163.1:p.Asp93TrpfsTer13 | |
| NR_037806.1:n.1480-144_1480-143del (NPPA-AS1) | ||
| NM_006172.4:c.277_278del (NPPA) MANE Select | NP_006163.1:p.Asp93TrpfsTer13 |