Linked Data
dbSNP Id:
rs749205766
ExAC:
1:11907168 AC / A
gnomAD v2:
1-11907168-AC-A
gnomAD v4:
1-11847111-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847114del , CM000663.2:g.11847114del | GRCh38 |
| NC_000001.10:g.11907171del , CM000663.1:g.11907171del | GRCh37 |
| NC_000001.9:g.11829758del | NCBI36 |
| NG_012926.1:g.5672del , LRG_751:g.5672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-463del (CLCN6) | ENSP00000496938.1:n.*1962-463del | |
| ENST00000446542.5:n.782-320del (NPPA-AS1) | ||
| ENST00000376476.1:c.300+1del (NPPA) | ||
| ENST00000376480.7:c.450+1del (NPPA) | ||
| ENST00000610706.1:c.450+1del (NPPA) | ||
| NM_006172.3:c.450+1del , LRG_751t1:c.450+1del (NPPA) | ||
| NR_037806.1:n.1480-320del (NPPA-AS1) | ||
| NM_006172.4:c.450+1del (NPPA) |