Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844008_11844031del , CM000663.2:g.11844008_11844031del | GRCh38 |
| NC_000001.10:g.11904065_11904088del , CM000663.1:g.11904065_11904088del | GRCh37 |
| NC_000001.9:g.11826652_11826675del | NCBI36 |
| NG_008766.1:g.42859_42882del | |
| NG_012926.1:g.8764_8787del , LRG_751:g.8764_8787del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1676_*1699del (CLCN6) | ENSP00000496938.1:n.*1676_*1699del | |
| ENST00000446542.5:n.496_519del (NPPA-AS1) | ||
| NR_037806.1:n.1194_1217del (NPPA-AS1) |