Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843740_11843743delinsTCTC , CM000663.2:g.11843740_11843743delinsTCTC | GRCh38 |
| NC_000001.10:g.11903797_11903800delinsTCTC , CM000663.1:g.11903797_11903800delinsTCTC | GRCh37 |
| NC_000001.9:g.11826384_11826387delinsTCTC | NCBI36 |
| NG_008766.1:g.42591_42594delinsTCTC | |
| NG_012926.1:g.9041_9044delinsGAGA , LRG_751:g.9041_9044delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1408_*1411delinsTCTC (CLCN6) | ENSP00000496938.1:n.*1408_*1411delinsTCTC | |
| ENST00000446542.5:n.228_231delinsTCTC (NPPA-AS1) | ||
| NR_037806.1:n.926_929delinsTCTC (NPPA-AS1) |