Canonical Allele Identifier: CA2612219131

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319855-GTGGCCTGAGCTAGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319859_6319874del , CM000673.2:g.6319859_6319874del	GRCh38
NC_000011.9:g.6341089_6341104del , CM000673.1:g.6341089_6341104del	GRCh37
NC_000011.8:g.6297665_6297680del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+222_384+237del MANE Select	ENSP00000307292.3:n.384+222_384+237del
ENST00000303927.3:c.384+222_384+237del	ENSP00000307292.3:n.384+222_384+237del
ENST00000524852.1:n.64-200_64-185del
ENST00000530979.1:c.385-119_385-104del	ENSP00000432047.1:n.385-119_385-104del
ENST00000532354.1:n.192_207del
NM_145040.2:c.384+222_384+237del	NP_659477.2:n.384+222_384+237del
XR_242848.3:n.136+162_136+177del
XR_242849.3:n.136+162_136+177del
XR_428874.2:n.136+162_136+177del
XR_930992.1:n.136+162_136+177del
XR_930994.1:n.136+162_136+177del
XR_930995.1:n.136+162_136+177del
XR_930996.1:n.136+162_136+177del
XR_930997.1:n.720+1639_720+1654del
XR_930998.1:n.136+162_136+177del
XR_930999.1:n.136+162_136+177del
XR_001748105.2:n.155+162_155+177del
XR_001748106.1:n.308+162_308+177del
XR_001748108.2:n.155+162_155+177del
XR_001748109.2:n.164+162_164+177del
XR_242848.4:n.557+162_557+177del
XR_930992.3:n.155+162_155+177del
XR_930994.3:n.155+162_155+177del
XR_930995.3:n.155+162_155+177del
XR_930998.3:n.155+162_155+177del
NM_145040.3:c.384+222_384+237del MANE Select	NP_659477.2:n.384+222_384+237del