Canonical Allele Identifier: CA1950112907

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319868_6319869delinsGA , CM000673.2:g.6319868_6319869delinsGA	GRCh38
NC_000011.9:g.6341098_6341099delinsGA , CM000673.1:g.6341098_6341099delinsGA	GRCh37
NC_000011.8:g.6297674_6297675delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+224_384+225delinsTC MANE Select	ENSP00000307292.3:n.384+224_384+225delinsTC
ENST00000303927.3:c.384+224_384+225delinsTC	ENSP00000307292.3:n.384+224_384+225delinsTC
ENST00000524852.1:n.64-198_64-197delinsTC
ENST00000530979.1:c.385-117_385-116delinsTC	ENSP00000432047.1:n.385-117_385-116delinsTC
ENST00000532354.1:n.194_195delinsTC
NM_145040.2:c.384+224_384+225delinsTC	NP_659477.2:n.384+224_384+225delinsTC
XR_242848.3:n.136+171_136+172delinsGA
XR_242849.3:n.136+171_136+172delinsGA
XR_428874.2:n.136+171_136+172delinsGA
XR_930992.1:n.136+171_136+172delinsGA
XR_930994.1:n.136+171_136+172delinsGA
XR_930995.1:n.136+171_136+172delinsGA
XR_930996.1:n.136+171_136+172delinsGA
XR_930997.1:n.720+1648_720+1649delinsGA
XR_930998.1:n.136+171_136+172delinsGA
XR_930999.1:n.136+171_136+172delinsGA
XR_001748105.2:n.155+171_155+172delinsGA
XR_001748106.1:n.308+171_308+172delinsGA
XR_001748108.2:n.155+171_155+172delinsGA
XR_001748109.2:n.164+171_164+172delinsGA
XR_242848.4:n.557+171_557+172delinsGA
XR_930992.3:n.155+171_155+172delinsGA
XR_930994.3:n.155+171_155+172delinsGA
XR_930995.3:n.155+171_155+172delinsGA
XR_930998.3:n.155+171_155+172delinsGA
NM_145040.3:c.384+224_384+225delinsTC MANE Select	NP_659477.2:n.384+224_384+225delinsTC