Canonical Allele Identifier: CA999332552
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

gnomAD v3: 1-20645478-ACTCCATCT-A
gnomAD v4: 1-20645478-ACTCCATCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645480_20645487del , CM000663.2:g.20645480_20645487del GRCh38
NC_000001.10:g.20971973_20971980del , CM000663.1:g.20971973_20971980del GRCh37
NC_000001.9:g.20844560_20844567del NCBI36
NG_008164.1:g.17026_17033del

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-80_960-73del (PINK1) MANE Select ENSP00000364204.3:n.960-80_960-73del
ENST00000321556.4:c.960-80_960-73del (PINK1) ENSP00000364204.3:n.960-80_960-73del
ENST00000492302.1:n.2048-80_2048-73del (PINK1)
NM_032409.2:c.960-80_960-73del (PINK1) NP_115785.1:n.960-80_960-73del
NR_046507.1:n.3981+99_3981+106del (PINK1-AS)
NM_032409.3:c.960-80_960-73del (PINK1) MANE Select NP_115785.1:n.960-80_960-73del
Search 100 bp 5'
Search 100 bp 3'