Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847387_11847388del , CM000663.2:g.11847387_11847388del | GRCh38 |
| NC_000001.10:g.11907444_11907445del , CM000663.1:g.11907444_11907445del | GRCh37 |
| NC_000001.9:g.11830031_11830032del | NCBI36 |
| NG_012926.1:g.5399_5400del , LRG_751:g.5399_5400del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-190_*1962-189del (CLCN6) | ENSP00000496938.1:n.*1962-190_*1962-189del | |
| ENST00000446542.5:n.782-47_782-46del (NPPA-AS1) | ||
| ENST00000376476.1:c.28_29del (NPPA) | ENSP00000365659.1:p.Pro10ThrfsTer5 | |
| ENST00000376480.7:c.178_179del (NPPA) MANE Select | ENSP00000365663.3:p.Pro60ThrfsTer5 | |
| ENST00000610706.1:c.178_179del (NPPA) | ENSP00000483195.1:p.Pro60ThrfsTer5 | |
| NM_006172.3:c.178_179del , LRG_751t1:c.178_179del (NPPA) | NP_006163.1:p.Pro60ThrfsTer5 | |
| NR_037806.1:n.1480-47_1480-46del (NPPA-AS1) | ||
| NM_006172.4:c.178_179del (NPPA) MANE Select | NP_006163.1:p.Pro60ThrfsTer5 |