Linked Data
dbSNP Id:
rs1553122981
gnomAD v2:
1-11906978-C-CTT
gnomAD v3:
1-11846921-C-CTT
gnomAD v4:
1-11846921-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846930_11846931dup , CM000663.2:g.11846930_11846931dup | GRCh38 |
| NC_000001.10:g.11906987_11906988dup , CM000663.1:g.11906987_11906988dup | GRCh37 |
| NC_000001.9:g.11829574_11829575dup | NCBI36 |
| NG_012926.1:g.5861_5862dup , LRG_751:g.5861_5862dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-647_*1962-646dup (CLCN6) | ENSP00000496938.1:n.*1962-647_*1962-646dup | |
| ENST00000446542.5:n.782-504_782-503dup (NPPA-AS1) | ||
| ENST00000376476.1:c.300+190_300+191dup (NPPA) | ENSP00000365659.1:n.300+190_300+191dup | |
| ENST00000376480.7:c.450+190_450+191dup (NPPA) MANE Select | ENSP00000365663.3:n.450+190_450+191dup | |
| ENST00000610706.1:c.450+190_450+191dup (NPPA) | ENSP00000483195.1:n.450+190_450+191dup | |
| NM_006172.3:c.450+190_450+191dup , LRG_751t1:c.450+190_450+191dup (NPPA) | NP_006163.1:n.450+190_450+191dup | |
| NR_037806.1:n.1480-504_1480-503dup (NPPA-AS1) | ||
| NM_006172.4:c.450+190_450+191dup (NPPA) MANE Select | NP_006163.1:n.450+190_450+191dup |