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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:
CA2683803172
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95318541-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95318543del , CM000669.2:g.95318543del
GRCh38
NC_000007.13:g.94947855del , CM000669.1:g.94947855del
GRCh37
NC_000007.12:g.94785791del
NCBI36
NG_008779.1:g.11031del
NG_008779.2:g.11165del
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.8:c.75-149del
MANE Select
ENSP00000222381.3:n.75-149del
ENST00000222381.7:c.75-149del
ENSP00000222381.3:n.75-149del
ENST00000433729.1:c.75-149del
ENSP00000407359.1:n.75-149del
ENST00000470502.1:n.46del
NM_000446.5:c.75-149del
NP_000437.3:n.75-149del
NM_000446.6:c.75-149del
NP_000437.3:n.75-149del
NM_000446.7:c.75-149del
MANE Select
NP_000437.3:n.75-149del
Search 100 bp 5'
Search 100 bp 3'