Canonical Allele Identifier: CA2740098057

Gene: CAV1

Linked Data

• ClinVar Variation Id: 3065015
• ClinVar RCV Id: RCV003990092

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116559186del , CM000669.2:g.116559186del	GRCh38
NC_000007.13:g.116199240del , CM000669.1:g.116199240del	GRCh37
NC_000007.12:g.115986476del	NCBI36
NG_012051.1:g.39402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.436del MANE Select	ENSP00000339191.2:p.Arg146ValfsTer?
ENST00000405348.6:c.343del	ENSP00000384348.1:p.Arg115ValfsTer?
ENST00000614113.5:c.*266del	ENSP00000479447.2:n.*266del
ENST00000341049.6:c.436del	ENSP00000339191.2:p.Arg146ValfsTer?
ENST00000393467.1:c.343del	ENSP00000377110.1:p.Arg115ValfsTer?
ENST00000393468.1:c.343del	ENSP00000377111.1:p.Arg115ValfsTer?
ENST00000393470.1:c.403del	ENSP00000377113.1:p.Arg135ValfsTer?
ENST00000405348.5:c.343del	ENSP00000384348.1:p.Arg115ValfsTer?
ENST00000451122.5:c.*888del	ENSP00000409541.1:n.*888del
ENST00000456473.5:c.343del	ENSP00000389033.1:p.Arg115ValfsTer?
ENST00000614113.4:c.343del	ENSP00000479447.1:p.Arg115ValfsTer?
NM_001172895.1:c.343del	NP_001166366.1:p.Arg115ValfsTer?
NM_001172896.1:c.343del	NP_001166367.1:p.Arg115ValfsTer?
NM_001172897.1:c.343del	NP_001166368.1:p.Arg115ValfsTer?
NM_001753.4:c.436del	NP_001744.2:p.Arg146ValfsTer?
NM_001753.5:c.436del MANE Select	NP_001744.2:p.Arg146ValfsTer?
NM_001172896.2:c.343del	NP_001166367.1:p.Arg115ValfsTer?
NM_001172897.2:c.343del	NP_001166368.1:p.Arg115ValfsTer?