Canonical Allele Identifier: CA2574249365
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645569_20645574del , CM000663.2:g.20645569_20645574del GRCh38
NC_000001.10:g.20972062_20972067del , CM000663.1:g.20972062_20972067del GRCh37
NC_000001.9:g.20844649_20844654del NCBI36
NG_008164.1:g.17115_17120del

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.969_974del (PINK1) MANE Select ENSP00000364204.3:p.Cys323_Leu325delinsTr...
ENST00000321556.4:c.969_974del (PINK1) ENSP00000364204.3:p.Cys323_Leu325delinsTr...
ENST00000400490.2:n.62_67del (PINK1)
ENST00000492302.1:n.2057_2062del (PINK1)
NM_032409.2:c.969_974del (PINK1) NP_115785.1:p.Cys323_Leu325delinsTrp
NR_046507.1:n.3981+11_3981+16del (PINK1-AS)
NM_032409.3:c.969_974del (PINK1) MANE Select NP_115785.1:p.Cys323_Leu325delinsTrp
Search 100 bp 5'
Search 100 bp 3'