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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:
CA2585203712
Gene: CYP2A6
HGNC
NCBI
Linked Data
gnomAD v4:
19-40843654-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40843655del , CM000681.2:g.40843655del
GRCh38
NC_000019.9:g.41349560del , CM000681.1:g.41349560del
GRCh37
NC_000019.8:g.46041400del
NCBI36
NG_008377.1:g.11793del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000301141.10:c.*141del
MANE Select
ENSP00000301141.4:n.*141del
ENST00000301141.9:c.*141del
ENSP00000301141.4:n.*141del
ENST00000599960.1:n.545del
ENST00000601627.1:c.119+42240del
NM_000762.5:c.*141del
NP_000753.3:n.*141del
NM_000762.6:c.*141del
MANE Select
NP_000753.3:n.*141del
Search 100 bp 5'
Search 100 bp 3'