Canonical Allele Identifier: CA660641
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 1625504
ClinVar RCV Id: RCV002109009
dbSNP Id: rs754009779

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645542del , CM000663.2:g.20645542del GRCh38
NC_000001.10:g.20972035del , CM000663.1:g.20972035del GRCh37
NC_000001.9:g.20844622del NCBI36
NG_008164.1:g.17088del

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-18del (PINK1) MANE Select ENSP00000364204.3:n.960-18del
ENST00000321556.4:c.960-18del (PINK1) ENSP00000364204.3:n.960-18del
ENST00000400490.2:n.35del (PINK1)
ENST00000492302.1:n.2048-18del (PINK1)
NM_032409.2:c.960-18del (PINK1) NP_115785.1:n.960-18del
NR_046507.1:n.3981+45del (PINK1-AS)
NM_032409.3:c.960-18del (PINK1) MANE Select NP_115785.1:n.960-18del