Canonical Allele Identifier: CA934768954

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846787265
• gnomAD v3: 11-6319673-T-TG
• gnomAD v4: 11-6319673-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319679dup , CM000673.2:g.6319679dup	GRCh38
NC_000011.9:g.6340909dup , CM000673.1:g.6340909dup	GRCh37
NC_000011.8:g.6297485dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-110dup MANE Select	ENSP00000307292.3:n.385-110dup
ENST00000303927.3:c.385-110dup	ENSP00000307292.3:n.385-110dup
ENST00000524852.1:n.64-3dup
ENST00000530979.1:c.463dup	ENSP00000432047.1:p.Gln155ProfsTer10
ENST00000532354.1:n.389dup
NM_145040.2:c.385-110dup	NP_659477.2:n.385-110dup
XR_242848.3:n.118dup
XR_242849.3:n.118dup
XR_428874.2:n.118dup
XR_930992.1:n.118dup
XR_930994.1:n.118dup
XR_930995.1:n.118dup
XR_930996.1:n.118dup
XR_930997.1:n.720+1459dup
XR_930998.1:n.118dup
XR_930999.1:n.118dup
XR_001748105.2:n.137dup
XR_001748106.1:n.290dup
XR_001748108.2:n.137dup
XR_001748109.2:n.146dup
XR_242848.4:n.539dup
XR_930992.3:n.137dup
XR_930994.3:n.137dup
XR_930995.3:n.137dup
XR_930998.3:n.137dup
NM_145040.3:c.385-110dup MANE Select	NP_659477.2:n.385-110dup