Canonical Allele Identifier: CA1950112416

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6318993_6319012delinsTGACTGCACCTCTTTCAGAG , CM000673.2:g.6318993_6319012delinsTGACTGCACCTCTTTCAGAG	GRCh38
NC_000011.9:g.6340223_6340242delinsTGACTGCACCTCTTTCAGAG , CM000673.1:g.6340223_6340242delinsTGACTGCACCTCTTTCAGAG	GRCh37
NC_000011.8:g.6296799_6296818delinsTGACTGCACCTCTTTCAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*151_*170delinsCTCTGAAAGAGGTGCAGTCA MANE Select	ENSP00000307292.3:n.*151_*170delinsCTCTGAAAGAGGTGCAGTCA
ENST00000303927.3:c.*151_*170delinsCTCTGAAAGAGGTGCAGTCA	ENSP00000307292.3:n.*151_*170delinsCTCTGAAAGAGGTGCAGTCA
ENST00000532354.1:n.959_978delinsCTCTGAAAGAGGTGCAGTCA
NM_145040.2:c.*151_*170delinsCTCTGAAAGAGGTGCAGTCA	NP_659477.2:n.*151_*170delinsCTCTGAAAGAGGTGCAGTCA
XR_930997.1:n.720+773_720+792delinsTGACTGCACCTCTTTCAGAG
NM_145040.3:c.*151_*170delinsCTCTGAAAGAGGTGCAGTCA MANE Select	NP_659477.2:n.*151_*170delinsCTCTGAAAGAGGTGCAGTCA