Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645651del , CM000663.2:g.20645651del | GRCh38 |
| NC_000001.10:g.20972144del , CM000663.1:g.20972144del | GRCh37 |
| NC_000001.9:g.20844731del | NCBI36 |
| NG_008164.1:g.17197del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1051del (PINK1) MANE Select | ENSP00000364204.3:p.Asp351ThrfsTer13 | |
| ENST00000321556.4:c.1051del (PINK1) | ENSP00000364204.3:p.Asp351ThrfsTer13 | |
| ENST00000400490.2:n.144del (PINK1) | ||
| ENST00000492302.1:n.2139del (PINK1) | ||
| NM_032409.2:c.1051del (PINK1) | NP_115785.1:p.Asp351ThrfsTer13 | |
| NR_046507.1:n.3916del (PINK1-AS) | ||
| NM_032409.3:c.1051del (PINK1) MANE Select | NP_115785.1:p.Asp351ThrfsTer13 |