Canonical Allele Identifier: CA660611

Gene: PINK1 PINK1-AS

Linked Data

• dbSNP Id: rs11379920
• ExAC: 1:20971980 C / CAAAAA
• gnomAD v3: 1-20645487-C-CAAAAA
• gnomAD v4: 1-20645487-C-CAAAAA
• MyVariant Identifiers: chr1:g.20971981_20971982insAAAAA (hg19) ; chr1:g.20971980_20971981insAAAAA (hg19) ; chr1:g.20645487_20645488insAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.20645500_20645504dup , CM000663.2:g.20645500_20645504dup	GRCh38
NC_000001.10:g.20971993_20971997dup , CM000663.1:g.20971993_20971997dup	GRCh37
NC_000001.9:g.20844580_20844584dup	NCBI36
NG_008164.1:g.17046_17050dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321556.5:c.960-60_960-56dup (PINK1) MANE Select	ENSP00000364204.3:n.960-60_960-56dup
ENST00000321556.4:c.960-60_960-56dup (PINK1)	ENSP00000364204.3:n.960-60_960-56dup
ENST00000492302.1:n.2048-60_2048-56dup (PINK1)
NM_032409.2:c.960-60_960-56dup (PINK1)	NP_115785.1:n.960-60_960-56dup
NR_046507.1:n.3981+93_3981+97dup (PINK1-AS)
NM_032409.3:c.960-60_960-56dup (PINK1) MANE Select	NP_115785.1:n.960-60_960-56dup