Canonical Allele Identifier: CA5852215

Gene: CAVIN3

Linked Data

• dbSNP Id: rs780849905
• ExAC: 11:6340525 A / AGCGCTCCGGCTGGGCTTCT
• gnomAD v2: 11-6340525-A-AGCGCTCCGGCTGGGCTTCT
• gnomAD v3: 11-6319295-A-AGCGCTCCGGCTGGGCTTCT
• gnomAD v4: 11-6319295-A-AGCGCTCCGGCTGGGCTTCT
• MyVariant Identifiers: chr11:g.6340525_6340526insGCGCTCCGGCTGGGCTTCT (hg19) ; chr11:g.6319295_6319296insGCGCTCCGGCTGGGCTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319305_6319306insTGGGCTTCTGCGCTCCGGC , CM000673.2:g.6319305_6319306insTGGGCTTCTGCGCTCCGGC	GRCh38
NC_000011.9:g.6340535_6340536insTGGGCTTCTGCGCTCCGGC , CM000673.1:g.6340535_6340536insTGGGCTTCTGCGCTCCGGC	GRCh37
NC_000011.8:g.6297111_6297112insTGGGCTTCTGCGCTCCGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.653_654insAGAAGCCCAGCCGGAGCGC MANE Select	ENSP00000307292.3:p.Ala224ArgfsTer2
ENST00000303927.3:c.653_654insAGAAGCCCAGCCGGAGCGC	ENSP00000307292.3:p.Ala224ArgfsTer2
ENST00000524852.1:n.439_440insAGAAGCCCAGCCGGAGCGC
ENST00000530979.1:c.749_750insAGAAGCCCAGCCGGAGCGC	ENSP00000432047.1:p.Ala256ArgfsTer2
ENST00000532354.1:n.675_676insAGAAGCCCAGCCGGAGCGC
NM_145040.2:c.653_654insAGAAGCCCAGCCGGAGCGC	NP_659477.2:p.Ala224ArgfsTer2
XR_930997.1:n.720+1085_720+1086insTGGGCTTCTGCGCTCCGGC
XR_242848.4:n.165_166insTGGGCTTCTGCGCTCCGGC
NM_145040.3:c.653_654insAGAAGCCCAGCCGGAGCGC MANE Select	NP_659477.2:p.Ala224ArgfsTer2