Canonical Allele Identifier: CA679092111

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1482617804
• gnomAD v3: 11-6319854-C-CCT
• gnomAD v4: 11-6319854-C-CCT
• MyVariant Identifiers: chr11:g.6341084_6341085insCT (hg19) ; chr11:g.6319854_6319855insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319854_6319855insCT , CM000673.2:g.6319854_6319855insCT	GRCh38
NC_000011.9:g.6341084_6341085insCT , CM000673.1:g.6341084_6341085insCT	GRCh37
NC_000011.8:g.6297660_6297661insCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+238_384+239insAG MANE Select	ENSP00000307292.3:n.384+238_384+239insAG
ENST00000303927.3:c.384+238_384+239insAG	ENSP00000307292.3:n.384+238_384+239insAG
ENST00000524852.1:n.64-184_64-183insAG
ENST00000530979.1:c.385-103_385-102insAG	ENSP00000432047.1:n.385-103_385-102insAG
ENST00000532354.1:n.208_209insAG
NM_145040.2:c.384+238_384+239insAG	NP_659477.2:n.384+238_384+239insAG
XR_242848.3:n.136+157_136+158insCT
XR_242849.3:n.136+157_136+158insCT
XR_428874.2:n.136+157_136+158insCT
XR_930992.1:n.136+157_136+158insCT
XR_930994.1:n.136+157_136+158insCT
XR_930995.1:n.136+157_136+158insCT
XR_930996.1:n.136+157_136+158insCT
XR_930997.1:n.720+1634_720+1635insCT
XR_930998.1:n.136+157_136+158insCT
XR_930999.1:n.136+157_136+158insCT
XR_001748105.2:n.155+157_155+158insCT
XR_001748106.1:n.308+157_308+158insCT
XR_001748108.2:n.155+157_155+158insCT
XR_001748109.2:n.164+157_164+158insCT
XR_242848.4:n.557+157_557+158insCT
XR_930992.3:n.155+157_155+158insCT
XR_930994.3:n.155+157_155+158insCT
XR_930995.3:n.155+157_155+158insCT
XR_930998.3:n.155+157_155+158insCT
NM_145040.3:c.384+238_384+239insAG MANE Select	NP_659477.2:n.384+238_384+239insAG