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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:
CA7660093
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs781718649
ExAC:
15:75047253 A / AT
gnomAD v2:
15-75047253-A-AT
gnomAD v3:
15-74754912-A-AT
gnomAD v4:
15-74754912-A-AT
MyVariant Identifiers:
chr15:g.75047253_75047254insT (hg19)
chr15:g.74754912_74754913insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754913dup , CM000677.2:g.74754913dup
GRCh38
NC_000015.9:g.75047254dup , CM000677.1:g.75047254dup
GRCh37
NC_000015.8:g.72834307dup
NCBI36
NG_008431.1:g.37372dup
NG_008431.2:g.37372dup
NG_061543.1:g.11069dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1376dup
MANE Select
ENSP00000342007.4:p.Gly460ArgfsTer?
ENST00000343932.4:c.1376dup
ENSP00000342007.4:p.Gly460ArgfsTer?
NM_000761.4:c.1376dup
NP_000752.2:p.Gly460ArgfsTer?
NM_000761.5:c.1376dup
MANE Select
NP_000752.2:p.Gly460ArgfsTer?
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