Canonical Allele Identifier: CA660617
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs779129205
ExAC: 1:20971991 A / AC
gnomAD v2: 1-20971991-A-AC
gnomAD v3: 1-20645498-A-AC
gnomAD v4: 1-20645498-A-AC
MyVariant Identifiers: chr1:g.20971991_20971992insC (hg19) chr1:g.20645498_20645499insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645498_20645499insC , CM000663.2:g.20645498_20645499insC GRCh38
NC_000001.10:g.20971991_20971992insC , CM000663.1:g.20971991_20971992insC GRCh37
NC_000001.9:g.20844578_20844579insC NCBI36
NG_008164.1:g.17044_17045insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-62_960-61insC (PINK1) MANE Select ENSP00000364204.3:n.960-62_960-61insC
ENST00000321556.4:c.960-62_960-61insC (PINK1) ENSP00000364204.3:n.960-62_960-61insC
ENST00000492302.1:n.2048-62_2048-61insC (PINK1)
NM_032409.2:c.960-62_960-61insC (PINK1) NP_115785.1:n.960-62_960-61insC
NR_046507.1:n.3981+86_3981+87insG (PINK1-AS)
NM_032409.3:c.960-62_960-61insC (PINK1) MANE Select NP_115785.1:n.960-62_960-61insC
Search 100 bp 5'
Search 100 bp 3'