Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645633_20645641del , CM000663.2:g.20645633_20645641del | GRCh38 |
| NC_000001.10:g.20972126_20972134del , CM000663.1:g.20972126_20972134del | GRCh37 |
| NC_000001.9:g.20844713_20844721del | NCBI36 |
| NG_008164.1:g.17179_17187del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1033_1041del (PINK1) MANE Select | ENSP00000364204.3:p.Gln345_Leu347del | |
| ENST00000321556.4:c.1033_1041del (PINK1) | ENSP00000364204.3:p.Gln345_Leu347del | |
| ENST00000400490.2:n.126_134del (PINK1) | ||
| ENST00000492302.1:n.2121_2129del (PINK1) | ||
| NM_032409.2:c.1033_1041del (PINK1) | NP_115785.1:p.Gln345_Leu347del | |
| NR_046507.1:n.3932_3940del (PINK1-AS) | ||
| NM_032409.3:c.1033_1041del (PINK1) MANE Select | NP_115785.1:p.Gln345_Leu347del |