Canonical Allele Identifier: CA204643

Gene: CAV1

Linked Data

• ClinVar Variation Id: 208669
• ClinVar RCV Id: RCV000190679 ; RCV000191044 ; RCV000766129
• dbSNP Id: rs797044871
• MyVariant Identifiers: chr7:g.116199283_116199284del (hg19) ; chr7:g.116559229_116559230del (hg38)
• PubMed: PMID:25356970 ; PMID:25898808

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116559229_116559230del , CM000669.2:g.116559229_116559230del	GRCh38
NC_000007.13:g.116199283_116199284del , CM000669.1:g.116199283_116199284del	GRCh37
NC_000007.12:g.115986519_115986520del	NCBI36
NG_012051.1:g.39445_39446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.479_480del MANE Select	ENSP00000339191.2:p.Phe160Ter
ENST00000405348.6:c.386_387del	ENSP00000384348.1:p.Phe129Ter
ENST00000614113.5:c.*309_*310del	ENSP00000479447.2:n.*309_*310del
ENST00000341049.6:c.479_480del	ENSP00000339191.2:p.Phe160Ter
ENST00000393467.1:c.386_387del	ENSP00000377110.1:p.Phe129Ter
ENST00000393468.1:c.386_387del	ENSP00000377111.1:p.Phe129Ter
ENST00000393470.1:c.446_447del	ENSP00000377113.1:p.Phe149Ter
ENST00000405348.5:c.386_387del	ENSP00000384348.1:p.Phe129Ter
ENST00000451122.5:c.*931_*932del	ENSP00000409541.1:n.*931_*932del
ENST00000456473.5:c.386_387del	ENSP00000389033.1:p.Phe129Ter
ENST00000614113.4:c.386_387del	ENSP00000479447.1:p.Phe129Ter
NM_001172895.1:c.386_387del	NP_001166366.1:p.Phe129Ter
NM_001172896.1:c.386_387del	NP_001166367.1:p.Phe129Ter
NM_001172897.1:c.386_387del	NP_001166368.1:p.Phe129Ter
NM_001753.4:c.479_480del	NP_001744.2:p.Phe160Ter
NM_001753.5:c.479_480del MANE Select	NP_001744.2:p.Phe160Ter
NM_001172896.2:c.386_387del	NP_001166367.1:p.Phe129Ter
NM_001172897.2:c.386_387del	NP_001166368.1:p.Phe129Ter