Canonical Allele Identifier: CA660613
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs756273070
ExAC: 1:20971984 A / AAG
gnomAD v2: 1-20971984-A-AAG
gnomAD v4: 1-20645491-A-AAG
MyVariant Identifiers: chr1:g.20971984_20971985insAG (hg19) chr1:g.20645491_20645492insAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645492_20645493insGA , CM000663.2:g.20645492_20645493insGA GRCh38
NC_000001.10:g.20971985_20971986insGA , CM000663.1:g.20971985_20971986insGA GRCh37
NC_000001.9:g.20844572_20844573insGA NCBI36
NG_008164.1:g.17038_17039insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-68_960-67insGA (PINK1) MANE Select ENSP00000364204.3:n.960-68_960-67insGA
ENST00000321556.4:c.960-68_960-67insGA (PINK1) ENSP00000364204.3:n.960-68_960-67insGA
ENST00000492302.1:n.2048-68_2048-67insGA (PINK1)
NM_032409.2:c.960-68_960-67insGA (PINK1) NP_115785.1:n.960-68_960-67insGA
NR_046507.1:n.3981+93_3981+94insCT (PINK1-AS)
NM_032409.3:c.960-68_960-67insGA (PINK1) MANE Select NP_115785.1:n.960-68_960-67insGA
Search 100 bp 5'
Search 100 bp 3'