Canonical Allele Identifier: CA521898857

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs1406819595
• gnomAD v2: 1-20974948-CAG-C
• MyVariant Identifiers: chr1:g.20974949_20974950del (hg19) ; chr1:g.20648456_20648457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20648458_20648459del , CM000663.2:g.20648458_20648459del	GRCh38
NC_000001.10:g.20974951_20974952del , CM000663.1:g.20974951_20974952del	GRCh37
NC_000001.9:g.20847538_20847539del	NCBI36
NG_008164.1:g.20004_20005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.1124-47_1124-46del (PINK1) MANE Select	ENSP00000364204.3:n.1124-47_1124-46del
ENST00000321556.4:c.1124-47_1124-46del (PINK1)	ENSP00000364204.3:n.1124-47_1124-46del
ENST00000400490.2:n.217-47_217-46del (PINK1)
ENST00000492302.1:n.2212-47_2212-46del (PINK1)
NM_032409.2:c.1124-47_1124-46del (PINK1)	NP_115785.1:n.1124-47_1124-46del
NR_046507.1:n.3737_3738del (PINK1-AS)
NM_032409.3:c.1124-47_1124-46del (PINK1) MANE Select	NP_115785.1:n.1124-47_1124-46del