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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:
CA971500727
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v3:
15-74754601-CAAAA-C
gnomAD v4:
15-74754601-CAAAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754611_74754614del , CM000677.2:g.74754611_74754614del
GRCh38
NC_000015.9:g.75046952_75046955del , CM000677.1:g.75046952_75046955del
GRCh37
NC_000015.8:g.72834005_72834008del
NCBI36
NG_008431.1:g.37070_37073del
NG_008431.2:g.37070_37073del
NG_061543.1:g.10767_10770del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1254-180_1254-177del
MANE Select
ENSP00000342007.4:n.1254-180_1254-177del
ENST00000343932.4:c.1254-180_1254-177del
ENSP00000342007.4:n.1254-180_1254-177del
NM_000761.4:c.1254-180_1254-177del
NP_000752.2:n.1254-180_1254-177del
NM_000761.5:c.1254-180_1254-177del
MANE Select
NP_000752.2:n.1254-180_1254-177del
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