Canonical Allele Identifier: CA2612218891

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319213-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319215_6319216del , CM000673.2:g.6319215_6319216del	GRCh38
NC_000011.9:g.6340445_6340446del , CM000673.1:g.6340445_6340446del	GRCh37
NC_000011.8:g.6297021_6297022del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.734_735del MANE Select	ENSP00000307292.3:p.Gly245GlufsTer?
ENST00000303927.3:c.734_735del	ENSP00000307292.3:p.Gly245GlufsTer?
ENST00000524852.1:n.520_521del
ENST00000530979.1:c.830_831del	ENSP00000432047.1:p.Gly277GlufsTer?
ENST00000532354.1:n.756_757del
NM_145040.2:c.734_735del	NP_659477.2:p.Gly245GlufsTer?
XR_930997.1:n.720+995_720+996del
XR_242848.4:n.75_76del
NM_145040.3:c.734_735del MANE Select	NP_659477.2:p.Gly245GlufsTer?