Canonical Allele Identifier: CA1950112483

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319123_6319124delinsGA , CM000673.2:g.6319123_6319124delinsGA	GRCh38
NC_000011.9:g.6340353_6340354delinsGA , CM000673.1:g.6340353_6340354delinsGA	GRCh37
NC_000011.8:g.6296929_6296930delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*39_*40delinsTC MANE Select	ENSP00000307292.3:n.*39_*40delinsTC
ENST00000303927.3:c.*39_*40delinsTC	ENSP00000307292.3:n.*39_*40delinsTC
ENST00000532354.1:n.847_848delinsTC
NM_145040.2:c.*39_*40delinsTC	NP_659477.2:n.*39_*40delinsTC
XR_930997.1:n.720+903_720+904delinsGA
NM_145040.3:c.*39_*40delinsTC MANE Select	NP_659477.2:n.*39_*40delinsTC