Canonical Allele Identifier: CA660612

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs752773249
• ExAC: 1:20971983 A / AAAG
• gnomAD v2: 1-20971983-A-AAAG
• gnomAD v4: 1-20645490-A-AAAG
• MyVariant Identifiers: chr1:g.20971983_20971984insAAG (hg19) ; chr1:g.20645490_20645491insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645492_20645493insGAA , CM000663.2:g.20645492_20645493insGAA	GRCh38
NC_000001.10:g.20971985_20971986insGAA , CM000663.1:g.20971985_20971986insGAA	GRCh37
NC_000001.9:g.20844572_20844573insGAA	NCBI36
NG_008164.1:g.17038_17039insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-68_960-67insGAA (PINK1) MANE Select	ENSP00000364204.3:n.960-68_960-67insGAA
ENST00000321556.4:c.960-68_960-67insGAA (PINK1)	ENSP00000364204.3:n.960-68_960-67insGAA
ENST00000492302.1:n.2048-68_2048-67insGAA (PINK1)
NM_032409.2:c.960-68_960-67insGAA (PINK1)	NP_115785.1:n.960-68_960-67insGAA
NR_046507.1:n.3981+94_3981+95insCTT (PINK1-AS)
NM_032409.3:c.960-68_960-67insGAA (PINK1) MANE Select	NP_115785.1:n.960-68_960-67insGAA