Canonical Allele Identifier: CA521898846
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1553146529
gnomAD v2: 1-20971997-A-AAAC
gnomAD v4: 1-20645504-A-AAAC
MyVariant Identifiers: chr1:g.20971998_20972000delinsAACCGT (hg19) chr1:g.20645505_20645507delinsAACCGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645504_20645505insAAC , CM000663.2:g.20645504_20645505insAAC GRCh38
NC_000001.10:g.20971997_20971998insAAC , CM000663.1:g.20971997_20971998insAAC GRCh37
NC_000001.9:g.20844584_20844585insAAC NCBI36
NG_008164.1:g.17050_17051insAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-56_960-55insAAC (PINK1) MANE Select ENSP00000364204.3:n.960-56_960-55insAAC
ENST00000321556.4:c.960-56_960-55insAAC (PINK1) ENSP00000364204.3:n.960-56_960-55insAAC
ENST00000492302.1:n.2048-56_2048-55insAAC (PINK1)
NM_032409.2:c.960-56_960-55insAAC (PINK1) NP_115785.1:n.960-56_960-55insAAC
NR_046507.1:n.3981+80_3981+81insGTT (PINK1-AS)
NM_032409.3:c.960-56_960-55insAAC (PINK1) MANE Select NP_115785.1:n.960-56_960-55insAAC
Search 100 bp 5'
Search 100 bp 3'