Linked Data
ClinVar Variation Id:
2409
ClinVar RCV Id:
RCV000002510
dbSNP Id:
rs730880302
MyVariant Identifiers:
chr1:g.20977008_20977011dupTTAG (hg19)
chr1:g.20650515_20650518dupTTAG (hg38)
PubMed:
PMID:15349871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20650515_20650518dup , CM000663.2:g.20650515_20650518dup | GRCh38 |
| NC_000001.10:g.20977008_20977011dup , CM000663.1:g.20977008_20977011dup | GRCh37 |
| NC_000001.9:g.20849595_20849598dup | NCBI36 |
| NG_008164.1:g.22061_22064dup | |
| NG_032064.1:g.16029_16032dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1570_1573dup (PINK1) MANE Select | ENSP00000364204.3:p.Asp525ValfsTer? | |
| ENST00000321556.4:c.1570_1573dup (PINK1) | ENSP00000364204.3:p.Asp525ValfsTer? | |
| ENST00000400490.2:n.663_666dup (PINK1) | ||
| ENST00000492302.1:n.3020_3023dup (PINK1) | ||
| NM_032409.2:c.1570_1573dup (PINK1) | NP_115785.1:p.Asp525ValfsTer? | |
| NR_046507.1:n.1678_1681dup (PINK1-AS) | ||
| NM_032409.3:c.1570_1573dup (PINK1) MANE Select | NP_115785.1:p.Asp525ValfsTer? |