Canonical Allele Identifier: CA541211277

Gene: CAV3

Linked Data

• dbSNP Id: rs1559654772
• gnomAD v2: 3-8787340-C-CGTCCCA
• gnomAD v4: 3-8745654-C-CGTCCCA
• MyVariant Identifiers: chr3:g.8787340_8787341insGTCCCA (hg19) ; chr3:g.8745654_8745655insGTCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745655_8745660dup , CM000665.2:g.8745655_8745660dup	GRCh38
NC_000003.11:g.8787341_8787346dup , CM000665.1:g.8787341_8787346dup	GRCh37
NC_000003.10:g.8762341_8762346dup	NCBI36
NG_008797.2:g.16846_16851dup , LRG_329:g.16846_16851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.244_249dup MANE Select	ENSP00000341940.2:p.Pro83_Leu84insValPro
ENST00000343849.2:c.244_249dup	ENSP00000341940.2:p.Pro83_Leu84insValPro
ENST00000397368.2:c.244_249dup	ENSP00000380525.2:p.Pro83_Leu84insValPro
ENST00000472766.1:n.155+11665_155+11670dup
NM_001234.4:c.244_249dup	NP_001225.1:p.Pro83_Leu84insValPro
NM_033337.2:c.244_249dup , LRG_329t1:c.244_249dup	NP_203123.1:p.Pro83_Leu84insValPro
NM_001234.5:c.244_249dup	NP_001225.1:p.Pro83_Leu84insValPro
NM_033337.3:c.244_249dup MANE Select	NP_203123.1:p.Pro83_Leu84insValPro