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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:
CA2683802458
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95307944-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95307945del , CM000669.2:g.95307945del
GRCh38
NC_000007.13:g.94937257del , CM000669.1:g.94937257del
GRCh37
NC_000007.12:g.94775193del
NCBI36
NG_008779.1:g.21628del
NG_008779.2:g.21762del
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.8:c.698+66del
MANE Select
ENSP00000222381.3:n.698+66del
ENST00000222381.7:c.698+66del
ENSP00000222381.3:n.698+66del
ENST00000433729.1:c.*423+66del
ENSP00000407359.1:n.*423+66del
NM_000446.5:c.698+66del
NP_000437.3:n.698+66del
NM_000446.6:c.698+66del
NP_000437.3:n.698+66del
NM_000446.7:c.698+66del
MANE Select
NP_000437.3:n.698+66del
Search 100 bp 5'
Search 100 bp 3'