Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645486_20645487delinsTC , CM000663.2:g.20645486_20645487delinsTC | GRCh38 |
| NC_000001.10:g.20971979_20971980delinsTC , CM000663.1:g.20971979_20971980delinsTC | GRCh37 |
| NC_000001.9:g.20844566_20844567delinsTC | NCBI36 |
| NG_008164.1:g.17032_17033delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-74_960-73delinsTC (PINK1) MANE Select | ENSP00000364204.3:n.960-74_960-73delinsTC | |
| ENST00000321556.4:c.960-74_960-73delinsTC (PINK1) | ENSP00000364204.3:n.960-74_960-73delinsTC | |
| ENST00000492302.1:n.2048-74_2048-73delinsTC (PINK1) | ||
| NM_032409.2:c.960-74_960-73delinsTC (PINK1) | NP_115785.1:n.960-74_960-73delinsTC | |
| NR_046507.1:n.3981+98_3981+99delinsGA (PINK1-AS) | ||
| NM_032409.3:c.960-74_960-73delinsTC (PINK1) MANE Select | NP_115785.1:n.960-74_960-73delinsTC |