Canonical Allele Identifier: CA1950112789

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319648_6319649delinsAC , CM000673.2:g.6319648_6319649delinsAC	GRCh38
NC_000011.9:g.6340878_6340879delinsAC , CM000673.1:g.6340878_6340879delinsAC	GRCh37
NC_000011.8:g.6297454_6297455delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-85_385-84delinsGT MANE Select	ENSP00000307292.3:n.385-85_385-84delinsGT
ENST00000303927.3:c.385-85_385-84delinsGT	ENSP00000307292.3:n.385-85_385-84delinsGT
ENST00000524852.1:n.86_87delinsGT
ENST00000530979.1:c.480+8_480+9delinsGT	ENSP00000432047.1:n.480+8_480+9delinsGT
ENST00000532354.1:n.406+8_406+9delinsGT
NM_145040.2:c.385-85_385-84delinsGT	NP_659477.2:n.385-85_385-84delinsGT
XR_242848.3:n.87_88delinsAC
XR_242849.3:n.87_88delinsAC
XR_428874.2:n.87_88delinsAC
XR_930992.1:n.87_88delinsAC
XR_930994.1:n.87_88delinsAC
XR_930995.1:n.87_88delinsAC
XR_930996.1:n.87_88delinsAC
XR_930997.1:n.720+1428_720+1429delinsAC
XR_930998.1:n.87_88delinsAC
XR_930999.1:n.87_88delinsAC
XR_001748105.2:n.106_107delinsAC
XR_001748106.1:n.259_260delinsAC
XR_001748108.2:n.106_107delinsAC
XR_001748109.2:n.115_116delinsAC
XR_242848.4:n.508_509delinsAC
XR_930992.3:n.106_107delinsAC
XR_930994.3:n.106_107delinsAC
XR_930995.3:n.106_107delinsAC
XR_930998.3:n.106_107delinsAC
NM_145040.3:c.385-85_385-84delinsGT MANE Select	NP_659477.2:n.385-85_385-84delinsGT