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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:
CA2643868945
Gene: PINK1
HGNC
NCBI
PINK1-AS
HGNC
NCBI
Linked Data
gnomAD v4:
1-20645367-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20645369del , CM000663.2:g.20645369del
GRCh38
NC_000001.10:g.20971862del , CM000663.1:g.20971862del
GRCh37
NC_000001.9:g.20844449del
NCBI36
NG_008164.1:g.16915del
Transcript Alleles
HGVS
Amino-acid change
ENST00000321556.5:c.960-191del
(PINK1)
MANE Select
ENSP00000364204.3:n.960-191del
ENST00000321556.4:c.960-191del
(PINK1)
ENSP00000364204.3:n.960-191del
ENST00000492302.1:n.2048-191del
(PINK1)
NM_032409.2:c.960-191del
(PINK1)
NP_115785.1:n.960-191del
NR_046507.1:n.3981+217del
(PINK1-AS)
NM_032409.3:c.960-191del
(PINK1)
MANE Select
NP_115785.1:n.960-191del
Search 100 bp 5'
Search 100 bp 3'