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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
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Canonical Allele Identifier:
CA2187827095
Gene: CYP1A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754906_74754910delinsCGGTG , CM000677.2:g.74754906_74754910delinsCGGTG
GRCh38
NC_000015.9:g.75047247_75047251delinsCGGTG , CM000677.1:g.75047247_75047251delinsCGGTG
GRCh37
NC_000015.8:g.72834300_72834304delinsCGGTG
NCBI36
NG_008431.1:g.37365_37369delinsCGGTG
NG_008431.2:g.37365_37369delinsCGGTG
NG_061543.1:g.11062_11066delinsCGGTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1369_1373delinsCGGTG
MANE Select
ENSP00000342007.4:p.Arg457=
ENST00000343932.4:c.1369_1373delinsCGGTG
ENSP00000342007.4:p.Arg457=
NM_000761.4:c.1369_1373delinsCGGTG
NP_000752.2:p.Arg457=
NM_000761.5:c.1369_1373delinsCGGTG
MANE Select
NP_000752.2:p.Arg457=
Search 100 bp 5'
Search 100 bp 3'