Linked Data
dbSNP Id:
rs764323136
gnomAD v2:
1-20971826-AC-A
gnomAD v3:
1-20645333-AC-A
gnomAD v4:
1-20645333-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645334del , CM000663.2:g.20645334del | GRCh38 |
| NC_000001.10:g.20971827del , CM000663.1:g.20971827del | GRCh37 |
| NC_000001.9:g.20844414del | NCBI36 |
| NG_008164.1:g.16880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-226del (PINK1) MANE Select | ENSP00000364204.3:n.960-226del | |
| ENST00000321556.4:c.960-226del (PINK1) | ENSP00000364204.3:n.960-226del | |
| ENST00000492302.1:n.2048-226del (PINK1) | ||
| NM_032409.2:c.960-226del (PINK1) | NP_115785.1:n.960-226del | |
| NR_046507.1:n.3981+251del (PINK1-AS) | ||
| NM_032409.3:c.960-226del (PINK1) MANE Select | NP_115785.1:n.960-226del |