Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20644577_20644578delinsAA , CM000663.2:g.20644577_20644578delinsAA | GRCh38 |
| NC_000001.10:g.20971070_20971071delinsAA , CM000663.1:g.20971070_20971071delinsAA | GRCh37 |
| NC_000001.9:g.20843657_20843658delinsAA | NCBI36 |
| NG_008164.1:g.16123_16124delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.864_865delinsAA (PINK1) MANE Select | ENSP00000364204.3:p.Pro289Thr | |
| ENST00000321556.4:c.864_865delinsAA (PINK1) | ENSP00000364204.3:p.Pro289Thr | |
| ENST00000492302.1:n.1952_1953delinsAA (PINK1) | ||
| NM_032409.2:c.864_865delinsAA (PINK1) | NP_115785.1:p.Pro289Thr | |
| NR_046507.1:n.3981+1007_3981+1008delinsTT (PINK1-AS) | ||
| NM_032409.3:c.864_865delinsAA (PINK1) MANE Select | NP_115785.1:p.Pro289Thr |