Canonical Allele Identifier: CA2612218775
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319026del , CM000673.2:g.6319026del GRCh38
NC_000011.9:g.6340256del , CM000673.1:g.6340256del GRCh37
NC_000011.8:g.6296832del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*139del MANE Select ENSP00000307292.3:n.*139del
ENST00000303927.3:c.*139del ENSP00000307292.3:n.*139del
ENST00000532354.1:n.947del
NM_145040.2:c.*139del NP_659477.2:n.*139del
XR_930997.1:n.720+806del
NM_145040.3:c.*139del MANE Select NP_659477.2:n.*139del