Canonical Allele Identifier: CA2790307732
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319796_6319797insGTCG , CM000673.2:g.6319796_6319797insGTCG GRCh38
NC_000011.9:g.6341026_6341027insGTCG , CM000673.1:g.6341026_6341027insGTCG GRCh37
NC_000011.8:g.6297602_6297603insGTCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-232_385-231insGACC MANE Select ENSP00000307292.3:n.385-232_385-231insGACC
ENST00000303927.3:c.385-232_385-231insGACC ENSP00000307292.3:n.385-232_385-231insGACC
ENST00000524852.1:n.64-125_64-124insGACC
ENST00000530979.1:c.385-44_385-43insGACC ENSP00000432047.1:n.385-44_385-43insGACC
ENST00000532354.1:n.267_268insGACC
NM_145040.2:c.385-232_385-231insGACC NP_659477.2:n.385-232_385-231insGACC
XR_242848.3:n.136+99_136+100insGTCG
XR_242849.3:n.136+99_136+100insGTCG
XR_428874.2:n.136+99_136+100insGTCG
XR_930992.1:n.136+99_136+100insGTCG
XR_930994.1:n.136+99_136+100insGTCG
XR_930995.1:n.136+99_136+100insGTCG
XR_930996.1:n.136+99_136+100insGTCG
XR_930997.1:n.720+1576_720+1577insGTCG
XR_930998.1:n.136+99_136+100insGTCG
XR_930999.1:n.136+99_136+100insGTCG
XR_001748105.2:n.155+99_155+100insGTCG
XR_001748106.1:n.308+99_308+100insGTCG
XR_001748108.2:n.155+99_155+100insGTCG
XR_001748109.2:n.164+99_164+100insGTCG
XR_242848.4:n.557+99_557+100insGTCG
XR_930992.3:n.155+99_155+100insGTCG
XR_930994.3:n.155+99_155+100insGTCG
XR_930995.3:n.155+99_155+100insGTCG
XR_930998.3:n.155+99_155+100insGTCG
NM_145040.3:c.385-232_385-231insGACC MANE Select NP_659477.2:n.385-232_385-231insGACC