Linked Data
gnomAD v4:
1-11845821-C-CATCAAACCACTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845825_11845837dup , CM000663.2:g.11845825_11845837dup | GRCh38 |
| NC_000001.10:g.11905882_11905894dup , CM000663.1:g.11905882_11905894dup | GRCh37 |
| NC_000001.9:g.11828469_11828481dup | NCBI36 |
| NG_012926.1:g.6950_6962dup , LRG_751:g.6950_6962dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1961+59_*1961+71dup (CLCN6) | ENSP00000496938.1:n.*1961+59_*1961+71dup | |
| ENST00000446542.5:n.781+59_781+71dup (NPPA-AS1) | ||
| ENST00000376480.7:c.*175_*187dup (NPPA) MANE Select | ENSP00000365663.3:n.*175_*187dup | |
| ENST00000610706.1:c.*169_*181dup (NPPA) | ENSP00000483195.1:n.*169_*181dup | |
| NM_006172.3:c.*175_*187dup , LRG_751t1:c.*175_*187dup (NPPA) | NP_006163.1:n.*175_*187dup | |
| NR_037806.1:n.1479+59_1479+71dup (NPPA-AS1) | ||
| NM_006172.4:c.*175_*187dup (NPPA) MANE Select | NP_006163.1:n.*175_*187dup |