Canonical Allele Identifier: CA1950112828
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846789210

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319709_6319710insC , CM000673.2:g.6319709_6319710insC GRCh38
NC_000011.9:g.6340939_6340940insC , CM000673.1:g.6340939_6340940insC GRCh37
NC_000011.8:g.6297515_6297516insC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-146_385-145insG MANE Select ENSP00000307292.3:n.385-146_385-145insG
ENST00000303927.3:c.385-146_385-145insG ENSP00000307292.3:n.385-146_385-145insG
ENST00000524852.1:n.64-39_64-38insG
ENST00000530979.1:c.427_428insG ENSP00000432047.1:p.Ser143CysfsTer22
ENST00000532354.1:n.353_354insG
NM_145040.2:c.385-146_385-145insG NP_659477.2:n.385-146_385-145insG
XR_242848.3:n.136+12_136+13insC
XR_242849.3:n.136+12_136+13insC
XR_428874.2:n.136+12_136+13insC
XR_930992.1:n.136+12_136+13insC
XR_930994.1:n.136+12_136+13insC
XR_930995.1:n.136+12_136+13insC
XR_930996.1:n.136+12_136+13insC
XR_930997.1:n.720+1489_720+1490insC
XR_930998.1:n.136+12_136+13insC
XR_930999.1:n.136+12_136+13insC
XR_001748105.2:n.155+12_155+13insC
XR_001748106.1:n.308+12_308+13insC
XR_001748108.2:n.155+12_155+13insC
XR_001748109.2:n.164+12_164+13insC
XR_242848.4:n.557+12_557+13insC
XR_930992.3:n.155+12_155+13insC
XR_930994.3:n.155+12_155+13insC
XR_930995.3:n.155+12_155+13insC
XR_930998.3:n.155+12_155+13insC
NM_145040.3:c.385-146_385-145insG MANE Select NP_659477.2:n.385-146_385-145insG