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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2643869268
Gene: PINK1
HGNC
NCBI
PINK1-AS
HGNC
NCBI
Linked Data
gnomAD v4:
1-20645478-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20645479del , CM000663.2:g.20645479del
GRCh38
NC_000001.10:g.20971972del , CM000663.1:g.20971972del
GRCh37
NC_000001.9:g.20844559del
NCBI36
NG_008164.1:g.17025del
Transcript Alleles
HGVS
Amino-acid change
ENST00000321556.5:c.960-81del
(PINK1)
MANE Select
ENSP00000364204.3:n.960-81del
ENST00000321556.4:c.960-81del
(PINK1)
ENSP00000364204.3:n.960-81del
ENST00000492302.1:n.2048-81del
(PINK1)
NM_032409.2:c.960-81del
(PINK1)
NP_115785.1:n.960-81del
NR_046507.1:n.3981+106del
(PINK1-AS)
NM_032409.3:c.960-81del
(PINK1)
MANE Select
NP_115785.1:n.960-81del
Search 100 bp 5'
Search 100 bp 3'