Canonical Allele Identifier: CA10575743
Gene: CAV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 204324
ClinVar RCV Id: RCV000186515
dbSNP Id: rs879255578
MyVariant Identifiers: chr7:g.116199204del (hg19) chr7:g.116559150del (hg38)
PubMed: PMID:11739396 PMID:18237401
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116559150del , CM000669.2:g.116559150del GRCh38
NC_000007.13:g.116199204del , CM000669.1:g.116199204del GRCh37
NC_000007.12:g.115986440del NCBI36
NG_012051.1:g.39366del

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.400del MANE Select ENSP00000339191.2:p.Ile134LeufsTer5
ENST00000405348.6:c.307del ENSP00000384348.1:p.Ile103LeufsTer5
ENST00000614113.5:c.*230del ENSP00000479447.2:n.*230del
ENST00000341049.6:c.400del ENSP00000339191.2:p.Ile134LeufsTer5
ENST00000393467.1:c.307del ENSP00000377110.1:p.Ile103LeufsTer5
ENST00000393468.1:c.307del ENSP00000377111.1:p.Ile103LeufsTer5
ENST00000393470.1:c.367del ENSP00000377113.1:p.Ile123LeufsTer5
ENST00000405348.5:c.307del ENSP00000384348.1:p.Ile103LeufsTer5
ENST00000451122.5:c.*852del ENSP00000409541.1:n.*852del
ENST00000456473.5:c.307del ENSP00000389033.1:p.Ile103LeufsTer5
ENST00000614113.4:c.307del ENSP00000479447.1:p.Ile103LeufsTer5
NM_001172895.1:c.307del NP_001166366.1:p.Ile103LeufsTer5
NM_001172896.1:c.307del NP_001166367.1:p.Ile103LeufsTer5
NM_001172897.1:c.307del NP_001166368.1:p.Ile103LeufsTer5
NM_001753.4:c.400del NP_001744.2:p.Ile134LeufsTer5
NM_001753.5:c.400del MANE Select NP_001744.2:p.Ile134LeufsTer5
NM_001172896.2:c.307del NP_001166367.1:p.Ile103LeufsTer5
NM_001172897.2:c.307del NP_001166368.1:p.Ile103LeufsTer5
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