Canonical Allele Identifier: CA934768990

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846791345
• gnomAD v3: 11-6319764-C-CGAGAAGAG
• gnomAD v4: 11-6319764-C-CGAGAAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319767_6319774dup , CM000673.2:g.6319767_6319774dup	GRCh38
NC_000011.9:g.6340997_6341004dup , CM000673.1:g.6340997_6341004dup	GRCh37
NC_000011.8:g.6297573_6297580dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-208_385-201dup MANE Select	ENSP00000307292.3:n.385-208_385-201dup
ENST00000303927.3:c.385-208_385-201dup	ENSP00000307292.3:n.385-208_385-201dup
ENST00000524852.1:n.64-101_64-94dup
ENST00000530979.1:c.385-20_385-13dup	ENSP00000432047.1:n.385-20_385-13dup
ENST00000532354.1:n.291_298dup
NM_145040.2:c.385-208_385-201dup	NP_659477.2:n.385-208_385-201dup
XR_242848.3:n.136+70_136+77dup
XR_242849.3:n.136+70_136+77dup
XR_428874.2:n.136+70_136+77dup
XR_930992.1:n.136+70_136+77dup
XR_930994.1:n.136+70_136+77dup
XR_930995.1:n.136+70_136+77dup
XR_930996.1:n.136+70_136+77dup
XR_930997.1:n.720+1547_720+1554dup
XR_930998.1:n.136+70_136+77dup
XR_930999.1:n.136+70_136+77dup
XR_001748105.2:n.155+70_155+77dup
XR_001748106.1:n.308+70_308+77dup
XR_001748108.2:n.155+70_155+77dup
XR_001748109.2:n.164+70_164+77dup
XR_242848.4:n.557+70_557+77dup
XR_930992.3:n.155+70_155+77dup
XR_930994.3:n.155+70_155+77dup
XR_930995.3:n.155+70_155+77dup
XR_930998.3:n.155+70_155+77dup
NM_145040.3:c.385-208_385-201dup MANE Select	NP_659477.2:n.385-208_385-201dup