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: CA563726148

Gene: C5orf46 HGNC NCBI

Linked Data

dbSNP Id: rs1311474389

gnomAD v2: 5-147234788-GTAAA-G

gnomAD v3: 5-147855225-GTAAA-G

gnomAD v4: 5-147855225-GTAAA-G

MyVariant Identifiers: chr5:g.147234789_147234792del (hg19) chr5:g.147855226_147855229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147855230_147855233del , CM000667.2:g.147855230_147855233del	GRCh38
NC_000005.9:g.147234793_147234796del , CM000667.1:g.147234793_147234796del	GRCh37
NC_000005.8:g.147214986_147214989del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_017009459.1:c.261-4687_261-4684del	XP_016864948.1:n.261-4687_261-4684del

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