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: CA679090765

Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1294492573

MyVariant Identifiers: chr11:g.6340320_6340321insT (hg19) chr11:g.6319090_6319091insT (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319091dup , CM000673.2:g.6319091dup	GRCh38
NC_000011.9:g.6340321dup , CM000673.1:g.6340321dup	GRCh37
NC_000011.8:g.6296897dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000303927.4:c.*72dup MANE Select	ENSP00000307292.3:n.*72dup
ENST00000303927.3:c.*72dup	ENSP00000307292.3:n.*72dup
ENST00000532354.1:n.880dup
NM_145040.2:c.*72dup	NP_659477.2:n.*72dup
XR_930997.1:n.720+871dup
NM_145040.3:c.*72dup MANE Select	NP_659477.2:n.*72dup

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