Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645333_20645334delinsAC , CM000663.2:g.20645333_20645334delinsAC | GRCh38 |
| NC_000001.10:g.20971826_20971827delinsAC , CM000663.1:g.20971826_20971827delinsAC | GRCh37 |
| NC_000001.9:g.20844413_20844414delinsAC | NCBI36 |
| NG_008164.1:g.16879_16880delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-227_960-226delinsAC (PINK1) MANE Select | ENSP00000364204.3:n.960-227_960-226delinsAC | |
| ENST00000321556.4:c.960-227_960-226delinsAC (PINK1) | ENSP00000364204.3:n.960-227_960-226delinsAC | |
| ENST00000492302.1:n.2048-227_2048-226delinsAC (PINK1) | ||
| NM_032409.2:c.960-227_960-226delinsAC (PINK1) | NP_115785.1:n.960-227_960-226delinsAC | |
| NR_046507.1:n.3981+251_3981+252delinsGT (PINK1-AS) | ||
| NM_032409.3:c.960-227_960-226delinsAC (PINK1) MANE Select | NP_115785.1:n.960-227_960-226delinsAC |