Canonical Allele Identifier: CA645512695
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645649_20645651del , CM000663.2:g.20645649_20645651del GRCh38
NC_000001.10:g.20972142_20972144del , CM000663.1:g.20972142_20972144del GRCh37
NC_000001.9:g.20844729_20844731del NCBI36
NG_008164.1:g.17195_17197del

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1049_1051del (PINK1) MANE Select ENSP00000364204.3:p.Val350del
ENST00000321556.4:c.1049_1051del (PINK1) ENSP00000364204.3:p.Val350del
ENST00000400490.2:n.142_144del (PINK1)
ENST00000492302.1:n.2137_2139del (PINK1)
NM_032409.2:c.1049_1051del (PINK1) NP_115785.1:p.Val350del
NR_046507.1:n.3916_3918del (PINK1-AS)
NM_032409.3:c.1049_1051del (PINK1) MANE Select NP_115785.1:p.Val350del