Linked Data
dbSNP Id:
rs764822115
gnomAD v2:
1-20971979-T-TAAAA
gnomAD v3:
1-20645486-T-TAAAA
gnomAD v4:
1-20645486-T-TAAAA
MyVariant Identifiers:
chr1:g.20971979_20971980insAAAA (hg19)
chr1:g.20645486_20645487insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645486_20645487insAAAA , CM000663.2:g.20645486_20645487insAAAA | GRCh38 |
| NC_000001.10:g.20971979_20971980insAAAA , CM000663.1:g.20971979_20971980insAAAA | GRCh37 |
| NC_000001.9:g.20844566_20844567insAAAA | NCBI36 |
| NG_008164.1:g.17032_17033insAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.960-74_960-73insAAAA (PINK1) MANE Select | ENSP00000364204.3:n.960-74_960-73insAAAA | |
| ENST00000321556.4:c.960-74_960-73insAAAA (PINK1) | ENSP00000364204.3:n.960-74_960-73insAAAA | |
| ENST00000492302.1:n.2048-74_2048-73insAAAA (PINK1) | ||
| NM_032409.2:c.960-74_960-73insAAAA (PINK1) | NP_115785.1:n.960-74_960-73insAAAA | |
| NR_046507.1:n.3981+98_3981+99insTTTT (PINK1-AS) | ||
| NM_032409.3:c.960-74_960-73insAAAA (PINK1) MANE Select | NP_115785.1:n.960-74_960-73insAAAA |