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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:
CA2629505099
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74749849-AGG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74749850_74749851del , CM000677.2:g.74749850_74749851del
GRCh38
NC_000015.9:g.75042191_75042192del , CM000677.1:g.75042191_75042192del
GRCh37
NC_000015.8:g.72829244_72829245del
NCBI36
NG_008431.1:g.32309_32310del
NG_008431.2:g.32309_32310del
NG_061543.1:g.6006_6007del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.112_113del
MANE Select
ENSP00000342007.4:p.Gly38ProfsTer?
ENST00000343932.4:c.112_113del
ENSP00000342007.4:p.Gly38ProfsTer?
NM_000761.4:c.112_113del
NP_000752.2:p.Gly38ProfsTer?
NM_000761.5:c.112_113del
MANE Select
NP_000752.2:p.Gly38ProfsTer?
Search 100 bp 5'
Search 100 bp 3'