Canonical Allele Identifier: CA215140
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8277
ClinVar RCV Id: RCV000008767 RCV000024380
dbSNP Id: rs199476331
MyVariant Identifiers: chr3:g.8787286_8787294del (hg19) chr3:g.8787283_8787291del (hg19) chr3:g.8745600_8745608del (hg38) chr3:g.8745597_8745605del (hg38)
PubMed: PMID:9537420 PMID:10464299
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745600_8745608del , CM000665.2:g.8745600_8745608del GRCh38
NC_000003.11:g.8787286_8787294del , CM000665.1:g.8787286_8787294del GRCh37
NC_000003.10:g.8762286_8762294del NCBI36
NG_008797.2:g.16791_16799del , LRG_329:g.16791_16799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.189_197del MANE Select ENSP00000341940.2:p.Thr64_Thr66del
ENST00000343849.2:c.189_197del ENSP00000341940.2:p.Thr64_Thr66del
ENST00000397368.2:c.189_197del ENSP00000380525.2:p.Thr64_Thr66del
ENST00000472766.1:n.155+11610_155+11618del
NM_001234.4:c.189_197del NP_001225.1:p.Thr64_Thr66del
NM_033337.2:c.189_197del , LRG_329t1:c.189_197del NP_203123.1:p.Thr64_Thr66del
NM_001234.5:c.189_197del NP_001225.1:p.Thr64_Thr66del
NM_033337.3:c.189_197del MANE Select NP_203123.1:p.Thr64_Thr66del
Search 100 bp 5'
Search 100 bp 3'