Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844083_11844084delinsAG , CM000663.2:g.11844083_11844084delinsAG | GRCh38 |
| NC_000001.10:g.11904140_11904141delinsAG , CM000663.1:g.11904140_11904141delinsAG | GRCh37 |
| NC_000001.9:g.11826727_11826728delinsAG | NCBI36 |
| NG_008766.1:g.42934_42935delinsAG | |
| NG_012926.1:g.8700_8701delinsCT , LRG_751:g.8700_8701delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1741+10_*1741+11delinsAG (CLCN6) | ENSP00000496938.1:n.*1741+10_*1741+11delinsAG | |
| ENST00000446542.5:n.561+10_561+11delinsAG (NPPA-AS1) | ||
| NR_037806.1:n.1259+10_1259+11delinsAG (NPPA-AS1) |