Canonical Allele Identifier: CA2612218859
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319116-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319120del , CM000673.2:g.6319120del GRCh38
NC_000011.9:g.6340350del , CM000673.1:g.6340350del GRCh37
NC_000011.8:g.6296926del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*46del MANE Select ENSP00000307292.3:n.*46del
ENST00000303927.3:c.*46del ENSP00000307292.3:n.*46del
ENST00000532354.1:n.854del
NM_145040.2:c.*46del NP_659477.2:n.*46del
XR_930997.1:n.720+900del
NM_145040.3:c.*46del MANE Select NP_659477.2:n.*46del
Search 100 bp 5'
Search 100 bp 3'