Canonical Allele Identifier: CA2574738509

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319619_6319621dup , CM000673.2:g.6319619_6319621dup	GRCh38
NC_000011.9:g.6340849_6340851dup , CM000673.1:g.6340849_6340851dup	GRCh37
NC_000011.8:g.6297425_6297427dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-57_385-55dup MANE Select	ENSP00000307292.3:n.385-57_385-55dup
ENST00000303927.3:c.385-57_385-55dup	ENSP00000307292.3:n.385-57_385-55dup
ENST00000524852.1:n.114_116dup
ENST00000530979.1:c.480+36_480+38dup	ENSP00000432047.1:n.480+36_480+38dup
ENST00000532354.1:n.406+36_406+38dup
NM_145040.2:c.385-57_385-55dup	NP_659477.2:n.385-57_385-55dup
XR_242848.3:n.58_60dup
XR_242849.3:n.58_60dup
XR_428874.2:n.58_60dup
XR_930992.1:n.58_60dup
XR_930994.1:n.58_60dup
XR_930995.1:n.58_60dup
XR_930996.1:n.58_60dup
XR_930997.1:n.720+1399_720+1401dup
XR_930998.1:n.58_60dup
XR_930999.1:n.58_60dup
XR_001748105.2:n.77_79dup
XR_001748106.1:n.230_232dup
XR_001748108.2:n.77_79dup
XR_001748109.2:n.86_88dup
XR_242848.4:n.479_481dup
XR_930992.3:n.77_79dup
XR_930994.3:n.77_79dup
XR_930995.3:n.77_79dup
XR_930998.3:n.77_79dup
NM_145040.3:c.385-57_385-55dup MANE Select	NP_659477.2:n.385-57_385-55dup