Linked Data
ClinVar Variation Id:
1250232
ClinVar RCV Id:
RCV001652482
dbSNP Id:
rs11379920
ExAC:
1:20971980 C / CA
gnomAD v2:
1-20971980-C-CA
gnomAD v3:
1-20645487-C-CA
gnomAD v4:
1-20645487-C-CA
COSMIC:
COSN20121876
MyVariant Identifiers:
chr1:g.20971997_20971998insA (hg19)
chr1:g.20971983_20971984insA (hg19)
chr1:g.20971981_20971982insA (hg19)
chr1:g.20971980_20971981insA (hg19)
chr1:g.20645504_20645505insA (hg38)
chr1:g.20645490_20645491insA (hg38)
chr1:g.20645488_20645489insA (hg38)
chr1:g.20645487_20645488insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645504dup , CM000663.2:g.20645504dup | GRCh38 |
| NC_000001.10:g.20971997dup , CM000663.1:g.20971997dup | GRCh37 |
| NC_000001.9:g.20844584dup | NCBI36 |
| NG_008164.1:g.17050dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-56dup (PINK1) MANE Select | ENSP00000364204.3:n.960-56dup | |
| ENST00000321556.4:c.960-56dup (PINK1) | ENSP00000364204.3:n.960-56dup | |
| ENST00000492302.1:n.2048-56dup (PINK1) | ||
| NM_032409.2:c.960-56dup (PINK1) | NP_115785.1:n.960-56dup | |
| NR_046507.1:n.3981+97dup (PINK1-AS) | ||
| NM_032409.3:c.960-56dup (PINK1) MANE Select | NP_115785.1:n.960-56dup |