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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:
CA2585203848
Gene: CYP2A6
HGNC
NCBI
Linked Data
gnomAD v4:
19-40843769-C-CCAGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40843771_40843774dup , CM000681.2:g.40843771_40843774dup
GRCh38
NC_000019.9:g.41349676_41349679dup , CM000681.1:g.41349676_41349679dup
GRCh37
NC_000019.8:g.46041516_46041519dup
NCBI36
NG_008377.1:g.11675_11678dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000301141.10:c.*23_*26dup
MANE Select
ENSP00000301141.4:n.*23_*26dup
ENST00000301141.9:c.*23_*26dup
ENSP00000301141.4:n.*23_*26dup
ENST00000599960.1:n.427_430dup
ENST00000601627.1:c.119+42356_119+42359dup
NM_000762.5:c.*23_*26dup
NP_000753.3:n.*23_*26dup
NM_000762.6:c.*23_*26dup
MANE Select
NP_000753.3:n.*23_*26dup
Search 100 bp 5'
Search 100 bp 3'