Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845758_11845834del , CM000663.2:g.11845758_11845834del | GRCh38 |
| NC_000001.10:g.11905815_11905891del , CM000663.1:g.11905815_11905891del | GRCh37 |
| NC_000001.9:g.11828402_11828478del | NCBI36 |
| NG_012926.1:g.6962_7038del , LRG_751:g.6962_7038del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1953_*1961+68del (CLCN6) | ||
| ENST00000446542.5:n.773_781+68del (NPPA-AS1) | ||
| ENST00000376480.7:c.*187_*263del (NPPA) MANE Select | ENSP00000365663.3:n.*187_*263del | |
| ENST00000610706.1:c.*181_*257del (NPPA) | ENSP00000483195.1:n.*181_*257del | |
| NM_006172.3:c.*187_*263del , LRG_751t1:c.*187_*263del (NPPA) | NP_006163.1:n.*187_*263del | |
| NR_037806.1:n.1471_1479+68del (NPPA-AS1) | ||
| NM_006172.4:c.*187_*263del (NPPA) MANE Select | NP_006163.1:n.*187_*263del |