Canonical Allele Identifier: CA2612219153

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319872-T-TGGGCGGGCTTGGATTGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319873_6319891dup , CM000673.2:g.6319873_6319891dup	GRCh38
NC_000011.9:g.6341103_6341121dup , CM000673.1:g.6341103_6341121dup	GRCh37
NC_000011.8:g.6297679_6297697dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+202_384+220dup MANE Select	ENSP00000307292.3:n.384+202_384+220dup
ENST00000303927.3:c.384+202_384+220dup	ENSP00000307292.3:n.384+202_384+220dup
ENST00000524852.1:n.63+202_64-202dup
ENST00000530979.1:c.385-139_385-121dup	ENSP00000432047.1:n.385-139_385-121dup
ENST00000532354.1:n.172_190dup
NM_145040.2:c.384+202_384+220dup	NP_659477.2:n.384+202_384+220dup
XR_242848.3:n.136+176_136+194dup
XR_242849.3:n.136+176_136+194dup
XR_428874.2:n.136+176_136+194dup
XR_930992.1:n.136+176_136+194dup
XR_930994.1:n.136+176_136+194dup
XR_930995.1:n.136+176_136+194dup
XR_930996.1:n.136+176_136+194dup
XR_930997.1:n.720+1653_720+1671dup
XR_930998.1:n.136+176_136+194dup
XR_930999.1:n.136+176_136+194dup
XR_001748105.2:n.155+176_155+194dup
XR_001748106.1:n.308+176_308+194dup
XR_001748108.2:n.155+176_155+194dup
XR_001748109.2:n.164+176_164+194dup
XR_242848.4:n.557+176_557+194dup
XR_930992.3:n.155+176_155+194dup
XR_930994.3:n.155+176_155+194dup
XR_930995.3:n.155+176_155+194dup
XR_930998.3:n.155+176_155+194dup
NM_145040.3:c.384+202_384+220dup MANE Select	NP_659477.2:n.384+202_384+220dup