Linked Data
dbSNP Id:
rs2053168949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645552dup , CM000663.2:g.20645552dup | GRCh38 |
| NC_000001.10:g.20972045dup , CM000663.1:g.20972045dup | GRCh37 |
| NC_000001.9:g.20844632dup | NCBI36 |
| NG_008164.1:g.17098dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.960-8dup (PINK1) MANE Select | ENSP00000364204.3:n.960-8dup | |
| ENST00000321556.4:c.960-8dup (PINK1) | ENSP00000364204.3:n.960-8dup | |
| ENST00000400490.2:n.45dup (PINK1) | ||
| ENST00000492302.1:n.2048-8dup (PINK1) | ||
| NM_032409.2:c.960-8dup (PINK1) | NP_115785.1:n.960-8dup | |
| NR_046507.1:n.3981+33dup (PINK1-AS) | ||
| NM_032409.3:c.960-8dup (PINK1) MANE Select | NP_115785.1:n.960-8dup |