Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645504_20645505insAAAC , CM000663.2:g.20645504_20645505insAAAC | GRCh38 |
| NC_000001.10:g.20971997_20971998insAAAC , CM000663.1:g.20971997_20971998insAAAC | GRCh37 |
| NC_000001.9:g.20844584_20844585insAAAC | NCBI36 |
| NG_008164.1:g.17050_17051insAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-56_960-55insAAAC (PINK1) MANE Select | ENSP00000364204.3:n.960-56_960-55insAAAC | |
| ENST00000321556.4:c.960-56_960-55insAAAC (PINK1) | ENSP00000364204.3:n.960-56_960-55insAAAC | |
| ENST00000492302.1:n.2048-56_2048-55insAAAC (PINK1) | ||
| NM_032409.2:c.960-56_960-55insAAAC (PINK1) | NP_115785.1:n.960-56_960-55insAAAC | |
| NR_046507.1:n.3981+80_3981+81insGTTT (PINK1-AS) | ||
| NM_032409.3:c.960-56_960-55insAAAC (PINK1) MANE Select | NP_115785.1:n.960-56_960-55insAAAC |