Canonical Allele Identifier: CA2790307730

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319793_6319794del , CM000673.2:g.6319793_6319794del	GRCh38
NC_000011.9:g.6341023_6341024del , CM000673.1:g.6341023_6341024del	GRCh37
NC_000011.8:g.6297599_6297600del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-230_385-229del MANE Select	ENSP00000307292.3:n.385-230_385-229del
ENST00000303927.3:c.385-230_385-229del	ENSP00000307292.3:n.385-230_385-229del
ENST00000524852.1:n.64-123_64-122del
ENST00000530979.1:c.385-42_385-41del	ENSP00000432047.1:n.385-42_385-41del
ENST00000532354.1:n.269_270del
NM_145040.2:c.385-230_385-229del	NP_659477.2:n.385-230_385-229del
XR_242848.3:n.136+96_136+97del
XR_242849.3:n.136+96_136+97del
XR_428874.2:n.136+96_136+97del
XR_930992.1:n.136+96_136+97del
XR_930994.1:n.136+96_136+97del
XR_930995.1:n.136+96_136+97del
XR_930996.1:n.136+96_136+97del
XR_930997.1:n.720+1573_720+1574del
XR_930998.1:n.136+96_136+97del
XR_930999.1:n.136+96_136+97del
XR_001748105.2:n.155+96_155+97del
XR_001748106.1:n.308+96_308+97del
XR_001748108.2:n.155+96_155+97del
XR_001748109.2:n.164+96_164+97del
XR_242848.4:n.557+96_557+97del
XR_930992.3:n.155+96_155+97del
XR_930994.3:n.155+96_155+97del
XR_930995.3:n.155+96_155+97del
XR_930998.3:n.155+96_155+97del
NM_145040.3:c.385-230_385-229del MANE Select	NP_659477.2:n.385-230_385-229del