Canonical Allele Identifier: CA2790307728

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319786_6319787insA , CM000673.2:g.6319786_6319787insA	GRCh38
NC_000011.9:g.6341016_6341017insA , CM000673.1:g.6341016_6341017insA	GRCh37
NC_000011.8:g.6297592_6297593insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-223_385-222insT MANE Select	ENSP00000307292.3:n.385-223_385-222insT
ENST00000303927.3:c.385-223_385-222insT	ENSP00000307292.3:n.385-223_385-222insT
ENST00000524852.1:n.64-116_64-115insT
ENST00000530979.1:c.385-35_385-34insT	ENSP00000432047.1:n.385-35_385-34insT
ENST00000532354.1:n.276_277insT
NM_145040.2:c.385-223_385-222insT	NP_659477.2:n.385-223_385-222insT
XR_242848.3:n.136+89_136+90insA
XR_242849.3:n.136+89_136+90insA
XR_428874.2:n.136+89_136+90insA
XR_930992.1:n.136+89_136+90insA
XR_930994.1:n.136+89_136+90insA
XR_930995.1:n.136+89_136+90insA
XR_930996.1:n.136+89_136+90insA
XR_930997.1:n.720+1566_720+1567insA
XR_930998.1:n.136+89_136+90insA
XR_930999.1:n.136+89_136+90insA
XR_001748105.2:n.155+89_155+90insA
XR_001748106.1:n.308+89_308+90insA
XR_001748108.2:n.155+89_155+90insA
XR_001748109.2:n.164+89_164+90insA
XR_242848.4:n.557+89_557+90insA
XR_930992.3:n.155+89_155+90insA
XR_930994.3:n.155+89_155+90insA
XR_930995.3:n.155+89_155+90insA
XR_930998.3:n.155+89_155+90insA
NM_145040.3:c.385-223_385-222insT MANE Select	NP_659477.2:n.385-223_385-222insT