Canonical Allele Identifier: CA658655752

Gene: CAV3

Linked Data

• ClinVar Variation Id: 457131
• ClinVar RCV Id: RCV000549832
• dbSNP Id: rs1553614446
• MyVariant Identifiers: chr3:g.8787434_8787442dup (hg19) ; chr3:g.8745748_8745756dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745748_8745756dup , CM000665.2:g.8745748_8745756dup	GRCh38
NC_000003.11:g.8787434_8787442dup , CM000665.1:g.8787434_8787442dup	GRCh37
NC_000003.10:g.8762434_8762442dup	NCBI36
NG_008797.2:g.16939_16947dup , LRG_329:g.16939_16947dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.337_345dup MANE Select	ENSP00000341940.2:p.Gln115_Cys116insGluIl...
ENST00000343849.2:c.337_345dup	ENSP00000341940.2:p.Gln115_Cys116insGluIl...
ENST00000397368.2:c.337_345dup	ENSP00000380525.2:p.Gln115_Cys116insGluIl...
ENST00000472766.1:n.155+11758_155+11766dup
NM_001234.4:c.337_345dup	NP_001225.1:p.Gln115_Cys116insGluIleGln
NM_033337.2:c.337_345dup , LRG_329t1:c.337_345dup	NP_203123.1:p.Gln115_Cys116insGluIleGln
NM_001234.5:c.337_345dup	NP_001225.1:p.Gln115_Cys116insGluIleGln
NM_033337.3:c.337_345dup MANE Select	NP_203123.1:p.Gln115_Cys116insGluIleGln