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: CA186000939

Gene: CCDC26 HGNC NCBI

Linked Data

dbSNP Id: rs530766865

gnomAD v2: 8-130613517-A-ATT

gnomAD v3: 8-129601271-A-ATT

gnomAD v4: 8-129601271-A-ATT

MyVariant Identifiers: chr8:g.130613517_130613518insTT (hg19) chr8:g.129601271_129601272insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.129601272_129601273dup , CM000670.2:g.129601272_129601273dup	GRCh38
NC_000008.10:g.130613518_130613519dup , CM000670.1:g.130613518_130613519dup	GRCh37
NC_000008.9:g.130682700_130682701dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_130917.1:n.312+78655_312+78656dup

Search 100 bp 5'

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