Canonical Allele Identifier: CA320527

Gene: CAV1

Linked Data

• ClinVar Variation Id: 212818
• ClinVar RCV Id: RCV000196114 ; RCV002054284 ; RCV001812184
• dbSNP Id: rs749316760
• ExAC: 7:116165158 T / TG
• gnomAD v2: 7-116165158-T-TG
• gnomAD v3: 7-116525104-T-TG
• gnomAD v4: 7-116525104-T-TG
• COSMIC: COSN2534085 ; COSN23012886
• MyVariant Identifiers: chr7:g.116165165dupG (hg19) ; chr7:g.116165159_116165160insG (hg19) ; chr7:g.116165158_116165159insG (hg19) ; chr7:g.116525111dupG (hg38) ; chr7:g.116525105_116525106insG (hg38) ; chr7:g.116525104_116525105insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525111dup , CM000669.2:g.116525111dup	GRCh38
NC_000007.13:g.116165165dup , CM000669.1:g.116165165dup	GRCh37
NC_000007.12:g.115952401dup	NCBI36
NG_012051.1:g.5327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+19dup MANE Select	ENSP00000339191.2:n.30+19dup
ENST00000614113.5:c.30+19dup	ENSP00000479447.2:n.30+19dup
ENST00000341049.6:c.30+19dup	ENSP00000339191.2:n.30+19dup
ENST00000393470.1:c.30+19dup	ENSP00000377113.1:n.30+19dup
ENST00000451122.5:c.49dup	ENSP00000409541.1:p.Ala17GlyfsTer?
ENST00000489856.1:n.81+19dup
ENST00000614113.4:c.-758dup	ENSP00000479447.1:n.-758dup
NM_001172895.1:c.-758dup	NP_001166366.1:n.-758dup
NM_001753.4:c.30+19dup	NP_001744.2:n.30+19dup
NM_001753.5:c.30+19dup MANE Select	NP_001744.2:n.30+19dup