Canonical Allele Identifier: CA1950112818

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319692_6319699delinsGGGAAGGT , CM000673.2:g.6319692_6319699delinsGGGAAGGT	GRCh38
NC_000011.9:g.6340922_6340929delinsGGGAAGGT , CM000673.1:g.6340922_6340929delinsGGGAAGGT	GRCh37
NC_000011.8:g.6297498_6297505delinsGGGAAGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-135_385-128delinsACCTTCCC MANE Select	ENSP00000307292.3:n.385-135_385-128delinsACCTTCCC
ENST00000303927.3:c.385-135_385-128delinsACCTTCCC	ENSP00000307292.3:n.385-135_385-128delinsACCTTCCC
ENST00000524852.1:n.64-28_64-21delinsACCTTCCC
ENST00000530979.1:c.438_445delinsACCTTCCC	ENSP00000432047.1:p.Leu146=
ENST00000532354.1:n.364_371delinsACCTTCCC
NM_145040.2:c.385-135_385-128delinsACCTTCCC	NP_659477.2:n.385-135_385-128delinsACCTTCCC
XR_242848.3:n.131_136+2delinsGGGAAGGT
XR_242849.3:n.131_136+2delinsGGGAAGGT
XR_428874.2:n.131_136+2delinsGGGAAGGT
XR_930992.1:n.131_136+2delinsGGGAAGGT
XR_930994.1:n.131_136+2delinsGGGAAGGT
XR_930995.1:n.131_136+2delinsGGGAAGGT
XR_930996.1:n.131_136+2delinsGGGAAGGT
XR_930997.1:n.720+1472_720+1479delinsGGGAAGGT
XR_930998.1:n.131_136+2delinsGGGAAGGT
XR_930999.1:n.131_136+2delinsGGGAAGGT
XR_001748105.2:n.150_155+2delinsGGGAAGGT
XR_001748106.1:n.303_308+2delinsGGGAAGGT
XR_001748108.2:n.150_155+2delinsGGGAAGGT
XR_001748109.2:n.159_164+2delinsGGGAAGGT
XR_242848.4:n.552_557+2delinsGGGAAGGT
XR_930992.3:n.150_155+2delinsGGGAAGGT
XR_930994.3:n.150_155+2delinsGGGAAGGT
XR_930995.3:n.150_155+2delinsGGGAAGGT
XR_930998.3:n.150_155+2delinsGGGAAGGT
NM_145040.3:c.385-135_385-128delinsACCTTCCC MANE Select	NP_659477.2:n.385-135_385-128delinsACCTTCCC