Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA217908482

Gene: CYP2R1 HGNC NCBI

Linked Data

dbSNP Id: rs782282304

gnomAD v3: 11-14893735-GA-G

gnomAD v4: 11-14893735-GA-G

MyVariant Identifiers: chr11:g.14915282del (hg19) chr11:g.14893736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14893736del , CM000673.2:g.14893736del	GRCh38
NC_000011.9:g.14915282del , CM000673.1:g.14915282del	GRCh37
NC_000011.8:g.14871858del	NCBI36
NG_007936.1:g.3470del

Transcript Alleles

HGVS	Amino-acid change
XM_011519898.1:c.-1492del	XP_011518200.1:n.-1492del
XM_011519898.3:c.-1492del	XP_011518200.1:n.-1492del

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