Canonical Allele Identifier: CA1950112578

Gene: CAVIN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319283_6319295delinsCGGCTGGGCTTCA , CM000673.2:g.6319283_6319295delinsCGGCTGGGCTTCA	GRCh38
NC_000011.9:g.6340513_6340525delinsCGGCTGGGCTTCA , CM000673.1:g.6340513_6340525delinsCGGCTGGGCTTCA	GRCh37
NC_000011.8:g.6297089_6297101delinsCGGCTGGGCTTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.654_666delinsTGAAGCCCAGCCG MANE Select	ENSP00000307292.3:p.Ala218=
ENST00000303927.3:c.654_666delinsTGAAGCCCAGCCG	ENSP00000307292.3:p.Ala218=
ENST00000524852.1:n.440_452delinsTGAAGCCCAGCCG
ENST00000530979.1:c.750_762delinsTGAAGCCCAGCCG	ENSP00000432047.1:p.Ala250=
ENST00000532354.1:n.676_688delinsTGAAGCCCAGCCG
NM_145040.2:c.654_666delinsTGAAGCCCAGCCG	NP_659477.2:p.Ala218=
XR_930997.1:n.720+1063_720+1075delinsCGGCTGGGCTTCA
XR_242848.4:n.143_155delinsCGGCTGGGCTTCA
NM_145040.3:c.654_666delinsTGAAGCCCAGCCG MANE Select	NP_659477.2:p.Ala218=