Canonical Allele Identifier: CA2236332
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 639987
dbSNP Id: rs780411707
gnomAD v2: 3-8787261-AC-A
gnomAD v3: 3-8745575-AC-A
gnomAD v4: 3-8745575-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745576del , CM000665.2:g.8745576del GRCh38
NC_000003.11:g.8787262del , CM000665.1:g.8787262del GRCh37
NC_000003.10:g.8762262del NCBI36
NG_008797.2:g.16767del , LRG_329:g.16767del

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.165del MANE Select ENSP00000341940.2:p.Asp55GlufsTer6
ENST00000343849.2:c.165del ENSP00000341940.2:p.Asp55GlufsTer6
ENST00000397368.2:c.165del ENSP00000380525.2:p.Asp55GlufsTer6
ENST00000472766.1:n.155+11586del
NM_001234.4:c.165del NP_001225.1:p.Asp55GlufsTer6
NM_033337.2:c.165del , LRG_329t1:c.165del NP_203123.1:p.Asp55GlufsTer6
NM_001234.5:c.165del NP_001225.1:p.Asp55GlufsTer6
NM_033337.3:c.165del MANE Select NP_203123.1:p.Asp55GlufsTer6