Canonical Allele Identifier: CA2742739409
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645388_20645389del , CM000663.2:g.20645388_20645389del GRCh38
NC_000001.10:g.20971881_20971882del , CM000663.1:g.20971881_20971882del GRCh37
NC_000001.9:g.20844468_20844469del NCBI36
NG_008164.1:g.16934_16935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-172_960-171del (PINK1) MANE Select ENSP00000364204.3:n.960-172_960-171del
ENST00000321556.4:c.960-172_960-171del (PINK1) ENSP00000364204.3:n.960-172_960-171del
ENST00000492302.1:n.2048-172_2048-171del (PINK1)
NM_032409.2:c.960-172_960-171del (PINK1) NP_115785.1:n.960-172_960-171del
NR_046507.1:n.3981+196_3981+197del (PINK1-AS)
NM_032409.3:c.960-172_960-171del (PINK1) MANE Select NP_115785.1:n.960-172_960-171del