Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847112_11847114delinsCCC , CM000663.2:g.11847112_11847114delinsCCC | GRCh38 |
| NC_000001.10:g.11907169_11907171delinsCCC , CM000663.1:g.11907169_11907171delinsCCC | GRCh37 |
| NC_000001.9:g.11829756_11829758delinsCCC | NCBI36 |
| NG_012926.1:g.5670_5672delinsGGG , LRG_751:g.5670_5672delinsGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1962-465_*1962-463delinsCCC (CLCN6) | ENSP00000496938.1:n.*1962-465_*1962-463de... | |
| ENST00000446542.5:n.782-322_782-320delinsCCC (NPPA-AS1) | ||
| ENST00000376476.1:c.299_300+1delinsGGG (NPPA) | ||
| ENST00000376480.7:c.449_450+1delinsGGG (NPPA) | ||
| ENST00000610706.1:c.449_450+1delinsGGG (NPPA) | ||
| NM_006172.3:c.449_450+1delinsGGG , LRG_751t1:c.449_450+1delinsGGG (NPPA) | ||
| NR_037806.1:n.1480-322_1480-320delinsCCC (NPPA-AS1) | ||
| NM_006172.4:c.449_450+1delinsGGG (NPPA) |