Canonical Allele Identifier: CA597438032

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1255306512
• gnomAD v2: 11-6340921-TGGGAAGGTAA-T
• gnomAD v3: 11-6319691-TGGGAAGGTAA-T
• gnomAD v4: 11-6319691-TGGGAAGGTAA-T
• MyVariant Identifiers: chr11:g.6340922_6340931del (hg19) ; chr11:g.6319692_6319701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319695_6319704del , CM000673.2:g.6319695_6319704del	GRCh38
NC_000011.9:g.6340925_6340934del , CM000673.1:g.6340925_6340934del	GRCh37
NC_000011.8:g.6297501_6297510del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-137_385-128del MANE Select	ENSP00000307292.3:n.385-137_385-128del
ENST00000303927.3:c.385-137_385-128del	ENSP00000307292.3:n.385-137_385-128del
ENST00000524852.1:n.64-30_64-21del
ENST00000530979.1:c.436_445del	ENSP00000432047.1:p.Leu146ThrfsTer?
ENST00000532354.1:n.362_371del
NM_145040.2:c.385-137_385-128del	NP_659477.2:n.385-137_385-128del
XR_242848.3:n.134_136+7del
XR_242849.3:n.134_136+7del
XR_428874.2:n.134_136+7del
XR_930992.1:n.134_136+7del
XR_930994.1:n.134_136+7del
XR_930995.1:n.134_136+7del
XR_930996.1:n.134_136+7del
XR_930997.1:n.720+1475_720+1484del
XR_930998.1:n.134_136+7del
XR_930999.1:n.134_136+7del
XR_001748105.2:n.153_155+7del
XR_001748106.1:n.306_308+7del
XR_001748108.2:n.153_155+7del
XR_001748109.2:n.162_164+7del
XR_242848.4:n.555_557+7del
XR_930992.3:n.153_155+7del
XR_930994.3:n.153_155+7del
XR_930995.3:n.153_155+7del
XR_930998.3:n.153_155+7del
NM_145040.3:c.385-137_385-128del MANE Select	NP_659477.2:n.385-137_385-128del