Canonical Allele Identifier: CA1950112633

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846774785

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319382del , CM000673.2:g.6319382del	GRCh38
NC_000011.9:g.6340612del , CM000673.1:g.6340612del	GRCh37
NC_000011.8:g.6297188del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.568del MANE Select	ENSP00000307292.3:p.Arg190GlufsTer?
ENST00000303927.3:c.568del	ENSP00000307292.3:p.Arg190GlufsTer?
ENST00000524852.1:n.354del
ENST00000530979.1:c.664del	ENSP00000432047.1:p.Arg222GlufsTer?
ENST00000532354.1:n.590del
NM_145040.2:c.568del	NP_659477.2:p.Arg190GlufsTer?
XR_930997.1:n.720+1162del
XR_242848.4:n.242del
NM_145040.3:c.568del MANE Select	NP_659477.2:p.Arg190GlufsTer?