Canonical Allele Identifier: CA1950112749

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319591_6319605delinsCCTGGCAGCTCCTTA , CM000673.2:g.6319591_6319605delinsCCTGGCAGCTCCTTA	GRCh38
NC_000011.9:g.6340821_6340835delinsCCTGGCAGCTCCTTA , CM000673.1:g.6340821_6340835delinsCCTGGCAGCTCCTTA	GRCh37
NC_000011.8:g.6297397_6297411delinsCCTGGCAGCTCCTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-41_385-27delinsTAAGGAGCTGCCAGG MANE Select	ENSP00000307292.3:n.385-41_385-27delinsTAAGGAGCTGCCAGG
ENST00000303927.3:c.385-41_385-27delinsTAAGGAGCTGCCAGG	ENSP00000307292.3:n.385-41_385-27delinsTAAGGAGCTGCCAGG
ENST00000524852.1:n.130_144delinsTAAGGAGCTGCCAGG
ENST00000530979.1:c.481-41_481-27delinsTAAGGAGCTGCCAGG	ENSP00000432047.1:n.481-41_481-27delinsTAAGGAGCTGCCAGG
ENST00000532354.1:n.407-41_407-27delinsTAAGGAGCTGCCAGG
NM_145040.2:c.385-41_385-27delinsTAAGGAGCTGCCAGG	NP_659477.2:n.385-41_385-27delinsTAAGGAGCTGCCAGG
XR_242848.3:n.30_44delinsCCTGGCAGCTCCTTA
XR_242849.3:n.30_44delinsCCTGGCAGCTCCTTA
XR_428874.2:n.30_44delinsCCTGGCAGCTCCTTA
XR_930992.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_930994.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_930995.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_930996.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_930997.1:n.720+1371_720+1385delinsCCTGGCAGCTCCTTA
XR_930998.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_930999.1:n.30_44delinsCCTGGCAGCTCCTTA
XR_001748105.2:n.49_63delinsCCTGGCAGCTCCTTA
XR_001748106.1:n.202_216delinsCCTGGCAGCTCCTTA
XR_001748108.2:n.49_63delinsCCTGGCAGCTCCTTA
XR_001748109.2:n.58_72delinsCCTGGCAGCTCCTTA
XR_242848.4:n.451_465delinsCCTGGCAGCTCCTTA
XR_930992.3:n.49_63delinsCCTGGCAGCTCCTTA
XR_930994.3:n.49_63delinsCCTGGCAGCTCCTTA
XR_930995.3:n.49_63delinsCCTGGCAGCTCCTTA
XR_930998.3:n.49_63delinsCCTGGCAGCTCCTTA
NM_145040.3:c.385-41_385-27delinsTAAGGAGCTGCCAGG MANE Select	NP_659477.2:n.385-41_385-27delinsTAAGGAGCTGCCAGG