Canonical Allele Identifier: CA2790307723

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319686del , CM000673.2:g.6319686del	GRCh38
NC_000011.9:g.6340916del , CM000673.1:g.6340916del	GRCh37
NC_000011.8:g.6297492del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-122del MANE Select	ENSP00000307292.3:n.385-122del
ENST00000303927.3:c.385-122del	ENSP00000307292.3:n.385-122del
ENST00000524852.1:n.64-15del
ENST00000530979.1:c.451del	ENSP00000432047.1:p.Cys151AlafsTer?
ENST00000532354.1:n.377del
NM_145040.2:c.385-122del	NP_659477.2:n.385-122del
XR_242848.3:n.125del
XR_242849.3:n.125del
XR_428874.2:n.125del
XR_930992.1:n.125del
XR_930994.1:n.125del
XR_930995.1:n.125del
XR_930996.1:n.125del
XR_930997.1:n.720+1466del
XR_930998.1:n.125del
XR_930999.1:n.125del
XR_001748105.2:n.144del
XR_001748106.1:n.297del
XR_001748108.2:n.144del
XR_001748109.2:n.153del
XR_242848.4:n.546del
XR_930992.3:n.144del
XR_930994.3:n.144del
XR_930995.3:n.144del
XR_930998.3:n.144del
NM_145040.3:c.385-122del MANE Select	NP_659477.2:n.385-122del