Canonical Allele Identifier: CA521898837

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1355369877
• gnomAD v2: 1-20971992-A-AC
• gnomAD v4: 1-20645499-A-AC
• MyVariant Identifiers: chr1:g.20971992_20971993insC (hg19) ; chr1:g.20645499_20645500insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645499_20645500insC , CM000663.2:g.20645499_20645500insC	GRCh38
NC_000001.10:g.20971992_20971993insC , CM000663.1:g.20971992_20971993insC	GRCh37
NC_000001.9:g.20844579_20844580insC	NCBI36
NG_008164.1:g.17045_17046insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-61_960-60insC (PINK1) MANE Select	ENSP00000364204.3:n.960-61_960-60insC
ENST00000321556.4:c.960-61_960-60insC (PINK1)	ENSP00000364204.3:n.960-61_960-60insC
ENST00000492302.1:n.2048-61_2048-60insC (PINK1)
NM_032409.2:c.960-61_960-60insC (PINK1)	NP_115785.1:n.960-61_960-60insC
NR_046507.1:n.3981+85_3981+86insG (PINK1-AS)
NM_032409.3:c.960-61_960-60insC (PINK1) MANE Select	NP_115785.1:n.960-61_960-60insC