Canonical Allele Identifier: CA5852260

Gene: CAVIN3

Linked Data

• dbSNP Id: rs779798954
• ExAC: 11:6340706 A / AGCTCTCTCCAACTTCGGCCTCCG
• gnomAD v2: 11-6340706-A-AGCTCTCTCCAACTTCGGCCTCCG
• gnomAD v4: 11-6319476-A-AGCTCTCTCCAACTTCGGCCTCCG
• MyVariant Identifiers: chr11:g.6340706_6340707insGCTCTCTCCAACTTCGGCCTCCG (hg19) ; chr11:g.6319476_6319477insGCTCTCTCCAACTTCGGCCTCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319479_6319480insCTCTCCAACTTCGGCCTCCGGCT , CM000673.2:g.6319479_6319480insCTCTCCAACTTCGGCCTCCGGCT	GRCh38
NC_000011.9:g.6340709_6340710insCTCTCCAACTTCGGCCTCCGGCT , CM000673.1:g.6340709_6340710insCTCTCCAACTTCGGCCTCCGGCT	GRCh37
NC_000011.8:g.6297285_6297286insCTCTCCAACTTCGGCCTCCGGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.472_473insCGGAGGCCGAAGTTGGAGAGAGC MANE Select	ENSP00000307292.3:p.Leu158ProfsTer?
ENST00000303927.3:c.472_473insCGGAGGCCGAAGTTGGAGAGAGC	ENSP00000307292.3:p.Leu158ProfsTer?
ENST00000524852.1:n.258_259insCGGAGGCCGAAGTTGGAGAGAGC
ENST00000530979.1:c.568_569insCGGAGGCCGAAGTTGGAGAGAGC	ENSP00000432047.1:p.Leu190ProfsTer?
ENST00000532354.1:n.494_495insCGGAGGCCGAAGTTGGAGAGAGC
NM_145040.2:c.472_473insCGGAGGCCGAAGTTGGAGAGAGC	NP_659477.2:p.Leu158ProfsTer?
XR_930997.1:n.720+1259_720+1260insCTCTCCAACTTCGGCCTCCGGCT
XR_001748106.1:n.90_91insCTCTCCAACTTCGGCCTCCGGCT
XR_242848.4:n.339_340insCTCTCCAACTTCGGCCTCCGGCT
NM_145040.3:c.472_473insCGGAGGCCGAAGTTGGAGAGAGC MANE Select	NP_659477.2:p.Leu158ProfsTer?