Canonical Allele Identifier: CA1950112816

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319691_6319701delinsTGGGAAGGTAA , CM000673.2:g.6319691_6319701delinsTGGGAAGGTAA	GRCh38
NC_000011.9:g.6340921_6340931delinsTGGGAAGGTAA , CM000673.1:g.6340921_6340931delinsTGGGAAGGTAA	GRCh37
NC_000011.8:g.6297497_6297507delinsTGGGAAGGTAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-137_385-127delinsTTACCTTCCCA MANE Select	ENSP00000307292.3:n.385-137_385-127delinsTTACCTTCCCA
ENST00000303927.3:c.385-137_385-127delinsTTACCTTCCCA	ENSP00000307292.3:n.385-137_385-127delinsTTACCTTCCCA
ENST00000524852.1:n.64-30_64-20delinsTTACCTTCCCA
ENST00000530979.1:c.436_446delinsTTACCTTCCCA	ENSP00000432047.1:p.Leu146=
ENST00000532354.1:n.362_372delinsTTACCTTCCCA
NM_145040.2:c.385-137_385-127delinsTTACCTTCCCA	NP_659477.2:n.385-137_385-127delinsTTACCTTCCCA
XR_242848.3:n.130_136+4delinsTGGGAAGGTAA
XR_242849.3:n.130_136+4delinsTGGGAAGGTAA
XR_428874.2:n.130_136+4delinsTGGGAAGGTAA
XR_930992.1:n.130_136+4delinsTGGGAAGGTAA
XR_930994.1:n.130_136+4delinsTGGGAAGGTAA
XR_930995.1:n.130_136+4delinsTGGGAAGGTAA
XR_930996.1:n.130_136+4delinsTGGGAAGGTAA
XR_930997.1:n.720+1471_720+1481delinsTGGGAAGGTAA
XR_930998.1:n.130_136+4delinsTGGGAAGGTAA
XR_930999.1:n.130_136+4delinsTGGGAAGGTAA
XR_001748105.2:n.149_155+4delinsTGGGAAGGTAA
XR_001748106.1:n.302_308+4delinsTGGGAAGGTAA
XR_001748108.2:n.149_155+4delinsTGGGAAGGTAA
XR_001748109.2:n.158_164+4delinsTGGGAAGGTAA
XR_242848.4:n.551_557+4delinsTGGGAAGGTAA
XR_930992.3:n.149_155+4delinsTGGGAAGGTAA
XR_930994.3:n.149_155+4delinsTGGGAAGGTAA
XR_930995.3:n.149_155+4delinsTGGGAAGGTAA
XR_930998.3:n.149_155+4delinsTGGGAAGGTAA
NM_145040.3:c.385-137_385-127delinsTTACCTTCCCA MANE Select	NP_659477.2:n.385-137_385-127delinsTTACCTTCCCA