Linked Data
gnomAD v4:
1-20645360-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645362_20645363del , CM000663.2:g.20645362_20645363del | GRCh38 |
| NC_000001.10:g.20971855_20971856del , CM000663.1:g.20971855_20971856del | GRCh37 |
| NC_000001.9:g.20844442_20844443del | NCBI36 |
| NG_008164.1:g.16908_16909del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-198_960-197del (PINK1) MANE Select | ENSP00000364204.3:n.960-198_960-197del | |
| ENST00000321556.4:c.960-198_960-197del (PINK1) | ENSP00000364204.3:n.960-198_960-197del | |
| ENST00000492302.1:n.2048-198_2048-197del (PINK1) | ||
| NM_032409.2:c.960-198_960-197del (PINK1) | NP_115785.1:n.960-198_960-197del | |
| NR_046507.1:n.3981+223_3981+224del (PINK1-AS) | ||
| NM_032409.3:c.960-198_960-197del (PINK1) MANE Select | NP_115785.1:n.960-198_960-197del |