Canonical Allele Identifier: CA5852164
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs776846711
ExAC: 11:6340353 GA / G
gnomAD v2: 11-6340353-GA-G
gnomAD v4: 11-6319123-GA-G
MyVariant Identifiers: chr11:g.6340354del (hg19) chr11:g.6319124del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319124del , CM000673.2:g.6319124del GRCh38
NC_000011.9:g.6340354del , CM000673.1:g.6340354del GRCh37
NC_000011.8:g.6296930del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*39del MANE Select ENSP00000307292.3:n.*39del
ENST00000303927.3:c.*39del ENSP00000307292.3:n.*39del
ENST00000532354.1:n.847del
NM_145040.2:c.*39del NP_659477.2:n.*39del
XR_930997.1:n.720+904del
NM_145040.3:c.*39del MANE Select NP_659477.2:n.*39del
Search 100 bp 5'
Search 100 bp 3'