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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:
CA2629509820
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74752149-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74752153del , CM000677.2:g.74752153del
GRCh38
NC_000015.9:g.75044494del , CM000677.1:g.75044494del
GRCh37
NC_000015.8:g.72831547del
NCBI36
NG_008431.1:g.34612del
NG_008431.2:g.34612del
NG_061543.1:g.8309del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1072del
MANE Select
ENSP00000342007.4:p.Arg358GlyfsTer?
ENST00000343932.4:c.1072del
ENSP00000342007.4:p.Arg358GlyfsTer?
NM_000761.4:c.1072del
NP_000752.2:p.Arg358GlyfsTer?
NM_000761.5:c.1072del
MANE Select
NP_000752.2:p.Arg358GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'