Canonical Allele Identifier: CA2989034380

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745676_8745677del , CM000665.2:g.8745676_8745677del	GRCh38
NC_000003.11:g.8787362_8787363del , CM000665.1:g.8787362_8787363del	GRCh37
NC_000003.10:g.8762362_8762363del	NCBI36
NG_008797.2:g.16867_16868del , LRG_329:g.16867_16868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.265_266del MANE Select	ENSP00000341940.2:p.Gly89LeufsTer19
ENST00000343849.2:c.265_266del	ENSP00000341940.2:p.Gly89LeufsTer19
ENST00000397368.2:c.265_266del	ENSP00000380525.2:p.Gly89LeufsTer19
ENST00000472766.1:n.155+11686_155+11687del
NM_001234.4:c.265_266del	NP_001225.1:p.Gly89LeufsTer19
NM_033337.2:c.265_266del , LRG_329t1:c.265_266del	NP_203123.1:p.Gly89LeufsTer19
NM_001234.5:c.265_266del	NP_001225.1:p.Gly89LeufsTer19
NM_033337.3:c.265_266del MANE Select	NP_203123.1:p.Gly89LeufsTer19