Canonical Allele Identifier: CA1950112632
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319380_6319381delinsCG , CM000673.2:g.6319380_6319381delinsCG GRCh38
NC_000011.9:g.6340610_6340611delinsCG , CM000673.1:g.6340610_6340611delinsCG GRCh37
NC_000011.8:g.6297186_6297187delinsCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.568_569delinsCG MANE Select ENSP00000307292.3:p.Arg190=
ENST00000303927.3:c.568_569delinsCG ENSP00000307292.3:p.Arg190=
ENST00000524852.1:n.354_355delinsCG
ENST00000530979.1:c.664_665delinsCG ENSP00000432047.1:p.Arg222=
ENST00000532354.1:n.590_591delinsCG
NM_145040.2:c.568_569delinsCG NP_659477.2:p.Arg190=
XR_930997.1:n.720+1160_720+1161delinsCG
XR_242848.4:n.240_241delinsCG
NM_145040.3:c.568_569delinsCG MANE Select NP_659477.2:p.Arg190=