Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843746_11843748del , CM000663.2:g.11843746_11843748del | GRCh38 |
| NC_000001.10:g.11903803_11903805del , CM000663.1:g.11903803_11903805del | GRCh37 |
| NC_000001.9:g.11826390_11826392del | NCBI36 |
| NG_008766.1:g.42597_42599del | |
| NG_012926.1:g.9041_9043del , LRG_751:g.9041_9043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1414_*1416del (CLCN6) | ENSP00000496938.1:n.*1414_*1416del | |
| ENST00000446542.5:n.234_236del (NPPA-AS1) | ||
| NR_037806.1:n.932_934del (NPPA-AS1) |