gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847019_11847023del , CM000663.2:g.11847019_11847023del | GRCh38 |
| NC_000001.10:g.11907076_11907080del , CM000663.1:g.11907076_11907080del | GRCh37 |
| NC_000001.9:g.11829663_11829667del | NCBI36 |
| NG_012926.1:g.5762_5766del , LRG_751:g.5762_5766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-558_*1962-554del (CLCN6) | ENSP00000496938.1:n.*1962-558_*1962-554del | |
| ENST00000446542.5:n.782-415_782-411del (NPPA-AS1) | ||
| ENST00000376476.1:c.300+91_300+95del (NPPA) | ENSP00000365659.1:n.300+91_300+95del | |
| ENST00000376480.7:c.450+91_450+95del (NPPA) MANE Select | ENSP00000365663.3:n.450+91_450+95del | |
| ENST00000610706.1:c.450+91_450+95del (NPPA) | ENSP00000483195.1:n.450+91_450+95del | |
| NM_006172.3:c.450+91_450+95del , LRG_751t1:c.450+91_450+95del (NPPA) | NP_006163.1:n.450+91_450+95del | |
| NR_037806.1:n.1480-415_1480-411del (NPPA-AS1) | ||
| NM_006172.4:c.450+91_450+95del (NPPA) MANE Select | NP_006163.1:n.450+91_450+95del |