Canonical Allele Identifier: CA660619

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs772421808
• ExAC: 1:20971994 A / AAAAC
• MyVariant Identifiers: chr1:g.20971994_20971995insAAAC (hg19) ; chr1:g.20645501_20645502insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645502_20645505dup , CM000663.2:g.20645502_20645505dup	GRCh38
NC_000001.10:g.20971995_20971998dup , CM000663.1:g.20971995_20971998dup	GRCh37
NC_000001.9:g.20844582_20844585dup	NCBI36
NG_008164.1:g.17048_17051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-58_960-55dup (PINK1) MANE Select	ENSP00000364204.3:n.960-58_960-55dup
ENST00000321556.4:c.960-58_960-55dup (PINK1)	ENSP00000364204.3:n.960-58_960-55dup
ENST00000492302.1:n.2048-58_2048-55dup (PINK1)
NM_032409.2:c.960-58_960-55dup (PINK1)	NP_115785.1:n.960-58_960-55dup
NR_046507.1:n.3981+80_3981+83dup (PINK1-AS)
NM_032409.3:c.960-58_960-55dup (PINK1) MANE Select	NP_115785.1:n.960-58_960-55dup