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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:
CA619412717
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1213723860
gnomAD v2:
15-75047251-G-GT
MyVariant Identifiers:
chr15:g.75047251_75047252insT (hg19)
chr15:g.74754910_74754911insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754911dup , CM000677.2:g.74754911dup
GRCh38
NC_000015.9:g.75047252dup , CM000677.1:g.75047252dup
GRCh37
NC_000015.8:g.72834305dup
NCBI36
NG_008431.1:g.37370dup
NG_008431.2:g.37370dup
NG_061543.1:g.11067dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1374dup
MANE Select
ENSP00000342007.4:p.Ile459TyrfsTer?
ENST00000343932.4:c.1374dup
ENSP00000342007.4:p.Ile459TyrfsTer?
NM_000761.4:c.1374dup
NP_000752.2:p.Ile459TyrfsTer?
NM_000761.5:c.1374dup
MANE Select
NP_000752.2:p.Ile459TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'