Canonical Allele Identifier: CA658796223

Gene: CAV3

Linked Data

• ClinVar Variation Id: 497829
• ClinVar RCV Id: RCV000597801
• dbSNP Id: rs1553614404
• MyVariant Identifiers: chr3:g.8787226_8787237del (hg19) ; chr3:g.8745540_8745551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745540_8745551del , CM000665.2:g.8745540_8745551del	GRCh38
NC_000003.11:g.8787226_8787237del , CM000665.1:g.8787226_8787237del	GRCh37
NC_000003.10:g.8762226_8762237del	NCBI36
NG_008797.2:g.16731_16742del , LRG_329:g.16731_16742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.129_140del MANE Select	ENSP00000341940.2:p.Asp43_Ala46del
ENST00000343849.2:c.129_140del	ENSP00000341940.2:p.Asp43_Ala46del
ENST00000397368.2:c.129_140del	ENSP00000380525.2:p.Asp43_Ala46del
ENST00000472766.1:n.155+11550_155+11561del
NM_001234.4:c.129_140del	NP_001225.1:p.Asp43_Ala46del
NM_033337.2:c.129_140del , LRG_329t1:c.129_140del	NP_203123.1:p.Asp43_Ala46del
NM_001234.5:c.129_140del	NP_001225.1:p.Asp43_Ala46del
NM_033337.3:c.129_140del MANE Select	NP_203123.1:p.Asp43_Ala46del