Canonical Allele Identifier: CA5852210

Gene: CAVIN3

Linked Data

• dbSNP Id: rs757038346
• ExAC: 11:6340510 T / TTCCGGCTGGGCTTCAGCGC
• gnomAD v2: 11-6340510-T-TTCCGGCTGGGCTTCAGCGC
• gnomAD v3: 11-6319280-T-TTCCGGCTGGGCTTCAGCGC
• gnomAD v4: 11-6319280-T-TTCCGGCTGGGCTTCAGCGC
• MyVariant Identifiers: chr11:g.6340510_6340511insTCCGGCTGGGCTTCAGCGC (hg19) ; chr11:g.6319280_6319281insTCCGGCTGGGCTTCAGCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319287_6319305dup , CM000673.2:g.6319287_6319305dup	GRCh38
NC_000011.9:g.6340517_6340535dup , CM000673.1:g.6340517_6340535dup	GRCh37
NC_000011.8:g.6297093_6297111dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.650_668dup MANE Select	ENSP00000307292.3:p.Ala224ArgfsTer2
ENST00000303927.3:c.650_668dup	ENSP00000307292.3:p.Ala224ArgfsTer2
ENST00000524852.1:n.436_454dup
ENST00000530979.1:c.746_764dup	ENSP00000432047.1:p.Ala256ArgfsTer2
ENST00000532354.1:n.672_690dup
NM_145040.2:c.650_668dup	NP_659477.2:p.Ala224ArgfsTer2
XR_930997.1:n.720+1067_720+1085dup
XR_242848.4:n.147_165dup
NM_145040.3:c.650_668dup MANE Select	NP_659477.2:p.Ala224ArgfsTer2