Canonical Allele Identifier: CA2697550658

Gene: CAV3

Linked Data

• ClinVar Variation Id: 2752803
• ClinVar RCV Id: RCV003531781

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745607_8745608insTT , CM000665.2:g.8745607_8745608insTT	GRCh38
NC_000003.11:g.8787293_8787294insTT , CM000665.1:g.8787293_8787294insTT	GRCh37
NC_000003.10:g.8762293_8762294insTT	NCBI36
NG_008797.2:g.16798_16799insTT , LRG_329:g.16798_16799insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.196_197insTT MANE Select	ENSP00000341940.2:p.Thr66IlefsTer?
ENST00000343849.2:c.196_197insTT	ENSP00000341940.2:p.Thr66IlefsTer?
ENST00000397368.2:c.196_197insTT	ENSP00000380525.2:p.Thr66IlefsTer?
ENST00000472766.1:n.155+11617_155+11618insTT
NM_001234.4:c.196_197insTT	NP_001225.1:p.Thr66IlefsTer?
NM_033337.2:c.196_197insTT , LRG_329t1:c.196_197insTT	NP_203123.1:p.Thr66IlefsTer?
NM_001234.5:c.196_197insTT	NP_001225.1:p.Thr66IlefsTer?
NM_033337.3:c.196_197insTT MANE Select	NP_203123.1:p.Thr66IlefsTer?