gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847383_11847385del , CM000663.2:g.11847383_11847385del | GRCh38 |
| NC_000001.10:g.11907440_11907442del , CM000663.1:g.11907440_11907442del | GRCh37 |
| NC_000001.9:g.11830027_11830029del | NCBI36 |
| NG_012926.1:g.5400_5402del , LRG_751:g.5400_5402del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-194_*1962-192del (CLCN6) | ENSP00000496938.1:n.*1962-194_*1962-192del | |
| ENST00000446542.5:n.782-51_782-49del (NPPA-AS1) | ||
| ENST00000376476.1:c.29_31del (NPPA) | ENSP00000365659.1:p.Pro10del | |
| ENST00000376480.7:c.179_181del (NPPA) MANE Select | ENSP00000365663.3:p.Pro60del | |
| ENST00000610706.1:c.179_181del (NPPA) | ENSP00000483195.1:p.Pro60del | |
| NM_006172.3:c.179_181del , LRG_751t1:c.179_181del (NPPA) | NP_006163.1:p.Pro60del | |
| NR_037806.1:n.1480-51_1480-49del (NPPA-AS1) | ||
| NM_006172.4:c.179_181del (NPPA) MANE Select | NP_006163.1:p.Pro60del |