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: CA1119137279

Gene: CCDC26 HGNC NCBI

Linked Data

dbSNP Id: rs1820171512

gnomAD v3: 8-129465530-A-G

gnomAD v4: 8-129465530-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.129465530A>G , CM000670.2:g.129465530A>G	GRCh38
NC_000008.10:g.130477776A>G , CM000670.1:g.130477776A>G	GRCh37
NC_000008.9:g.130546958A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_130917.1:n.360+15113T>C
NR_130918.1:n.138-95153T>C
NR_130919.1:n.138-65846T>C
NR_130920.1:n.138-65846T>C

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