Linked Data
ClinVar Variation Id:
1281814
ClinVar RCV Id:
RCV001693798
dbSNP Id:
rs11379920
ExAC:
1:20971980 CA / C
gnomAD v2:
1-20971980-CA-C
gnomAD v3:
1-20645487-CA-C
gnomAD v4:
1-20645487-CA-C
MyVariant Identifiers:
chr1:g.20971983del (hg19)
chr1:g.20971981del (hg19)
chr1:g.20645490del (hg38)
chr1:g.20645488del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645504del , CM000663.2:g.20645504del | GRCh38 |
| NC_000001.10:g.20971997del , CM000663.1:g.20971997del | GRCh37 |
| NC_000001.9:g.20844584del | NCBI36 |
| NG_008164.1:g.17050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-56del (PINK1) MANE Select | ENSP00000364204.3:n.960-56del | |
| ENST00000321556.4:c.960-56del (PINK1) | ENSP00000364204.3:n.960-56del | |
| ENST00000492302.1:n.2048-56del (PINK1) | ||
| NM_032409.2:c.960-56del (PINK1) | NP_115785.1:n.960-56del | |
| NR_046507.1:n.3981+97del (PINK1-AS) | ||
| NM_032409.3:c.960-56del (PINK1) MANE Select | NP_115785.1:n.960-56del |