Canonical Allele Identifier: CA2790307736

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319806_6319811del , CM000673.2:g.6319806_6319811del	GRCh38
NC_000011.9:g.6341036_6341041del , CM000673.1:g.6341036_6341041del	GRCh37
NC_000011.8:g.6297612_6297617del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-247_385-242del MANE Select	ENSP00000307292.3:n.385-247_385-242del
ENST00000303927.3:c.385-247_385-242del	ENSP00000307292.3:n.385-247_385-242del
ENST00000524852.1:n.64-140_64-135del
ENST00000530979.1:c.385-59_385-54del	ENSP00000432047.1:n.385-59_385-54del
ENST00000532354.1:n.252_257del
NM_145040.2:c.385-247_385-242del	NP_659477.2:n.385-247_385-242del
XR_242848.3:n.136+109_136+114del
XR_242849.3:n.136+109_136+114del
XR_428874.2:n.136+109_136+114del
XR_930992.1:n.136+109_136+114del
XR_930994.1:n.136+109_136+114del
XR_930995.1:n.136+109_136+114del
XR_930996.1:n.136+109_136+114del
XR_930997.1:n.720+1586_720+1591del
XR_930998.1:n.136+109_136+114del
XR_930999.1:n.136+109_136+114del
XR_001748105.2:n.155+109_155+114del
XR_001748106.1:n.308+109_308+114del
XR_001748108.2:n.155+109_155+114del
XR_001748109.2:n.164+109_164+114del
XR_242848.4:n.557+109_557+114del
XR_930992.3:n.155+109_155+114del
XR_930994.3:n.155+109_155+114del
XR_930995.3:n.155+109_155+114del
XR_930998.3:n.155+109_155+114del
NM_145040.3:c.385-247_385-242del MANE Select	NP_659477.2:n.385-247_385-242del