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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:
CA2742739407
Gene: PINK1
HGNC
NCBI
PINK1-AS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20645348del , CM000663.2:g.20645348del
GRCh38
NC_000001.10:g.20971841del , CM000663.1:g.20971841del
GRCh37
NC_000001.9:g.20844428del
NCBI36
NG_008164.1:g.16894del
Transcript Alleles
HGVS
Amino-acid change
ENST00000321556.5:c.960-212del
(PINK1)
MANE Select
ENSP00000364204.3:n.960-212del
ENST00000321556.4:c.960-212del
(PINK1)
ENSP00000364204.3:n.960-212del
ENST00000492302.1:n.2048-212del
(PINK1)
NM_032409.2:c.960-212del
(PINK1)
NP_115785.1:n.960-212del
NR_046507.1:n.3981+238del
(PINK1-AS)
NM_032409.3:c.960-212del
(PINK1)
MANE Select
NP_115785.1:n.960-212del
Search 100 bp 5'
Search 100 bp 3'