Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844024del , CM000663.2:g.11844024del | GRCh38 |
| NC_000001.10:g.11904081del , CM000663.1:g.11904081del | GRCh37 |
| NC_000001.9:g.11826668del | NCBI36 |
| NG_008766.1:g.42875del | |
| NG_012926.1:g.8761del , LRG_751:g.8761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1692del (CLCN6) | ENSP00000496938.1:n.*1692del | |
| ENST00000446542.5:n.512del (NPPA-AS1) | ||
| NR_037806.1:n.1210del (NPPA-AS1) |