Canonical Allele Identifier: CA915941859
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 795364
ClinVar RCV Id: RCV000978683
dbSNP Id: rs1575477373

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745520del , CM000665.2:g.8745520del GRCh38
NC_000003.11:g.8787206del , CM000665.1:g.8787206del GRCh37
NC_000003.10:g.8762206del NCBI36
NG_008797.2:g.16711del , LRG_329:g.16711del

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-6del MANE Select ENSP00000341940.2:p.=
ENST00000343849.2:c.115-6del ENSP00000341940.2:p.=
ENST00000397368.2:c.115-6del ENSP00000380525.2:p.=
ENST00000472766.1:n.155+11530del
NM_001234.4:c.115-6del NP_001225.1:p.=
NM_033337.2:c.115-6del , LRG_329t1:c.115-6del NP_203123.1:p.=
NM_001234.5:c.115-6del NP_001225.1:p.=
NM_033337.3:c.115-6del MANE Select NP_203123.1:p.=