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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:
CA573130676
Gene: AHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1402475802
gnomAD v2:
7-17325056-CTAAAT-C
gnomAD v3:
7-17285432-CTAAAT-C
gnomAD v4:
7-17285432-CTAAAT-C
MyVariant Identifiers:
chr7:g.17325057_17325061del (hg19)
chr7:g.17285433_17285437del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17285437_17285441del , CM000669.2:g.17285437_17285441del
GRCh38
NC_000007.13:g.17325061_17325065del , CM000669.1:g.17325061_17325065del
GRCh37
NC_000007.12:g.17291586_17291590del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642825.1:c.-202-10860_-202-10856del
ENSP00000495987.1:n.-202-10860_-202-10856del
XR_927069.1:n.567+806_567+810del
XR_927070.1:n.567+806_567+810del
XR_927071.1:n.567+806_567+810del
XR_927072.1:n.568+806_568+810del
XR_927073.2:n.711+806_711+810del
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