Canonical Allele Identifier: CA2612219020

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319676-GGGGAAAGGCAGGCGTGGGAAGGTAAGGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319684_6319713del , CM000673.2:g.6319684_6319713del	GRCh38
NC_000011.9:g.6340914_6340943del , CM000673.1:g.6340914_6340943del	GRCh37
NC_000011.8:g.6297490_6297519del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-142_385-113del MANE Select	ENSP00000307292.3:n.385-142_385-113del
ENST00000303927.3:c.385-142_385-113del	ENSP00000307292.3:n.385-142_385-113del
ENST00000524852.1:n.64-35_64-6del
ENST00000530979.1:c.431_460del	ENSP00000432047.1:p.Leu144_Ser153del
ENST00000532354.1:n.357_386del
NM_145040.2:c.385-142_385-113del	NP_659477.2:n.385-142_385-113del
XR_242848.3:n.123_136+16del
XR_242849.3:n.123_136+16del
XR_428874.2:n.123_136+16del
XR_930992.1:n.123_136+16del
XR_930994.1:n.123_136+16del
XR_930995.1:n.123_136+16del
XR_930996.1:n.123_136+16del
XR_930997.1:n.720+1464_720+1493del
XR_930998.1:n.123_136+16del
XR_930999.1:n.123_136+16del
XR_001748105.2:n.142_155+16del
XR_001748106.1:n.295_308+16del
XR_001748108.2:n.142_155+16del
XR_001748109.2:n.151_164+16del
XR_242848.4:n.544_557+16del
XR_930992.3:n.142_155+16del
XR_930994.3:n.142_155+16del
XR_930995.3:n.142_155+16del
XR_930998.3:n.142_155+16del
NM_145040.3:c.385-142_385-113del MANE Select	NP_659477.2:n.385-142_385-113del