Canonical Allele Identifier: CA1344405887
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2964228
ClinVar RCV Id: RCV003820330
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745726del , CM000665.2:g.8745726del GRCh38
NC_000003.11:g.8787412del , CM000665.1:g.8787412del GRCh37
NC_000003.10:g.8762412del NCBI36
NG_008797.2:g.16917del , LRG_329:g.16917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.315del MANE Select ENSP00000341940.2:p.Cys106AlafsTer6
ENST00000343849.2:c.315del ENSP00000341940.2:p.Cys106AlafsTer6
ENST00000397368.2:c.315del ENSP00000380525.2:p.Cys106AlafsTer6
ENST00000472766.1:n.155+11736del
NM_001234.4:c.315del NP_001225.1:p.Cys106AlafsTer6
NM_033337.2:c.315del , LRG_329t1:c.315del NP_203123.1:p.Cys106AlafsTer6
NM_001234.5:c.315del NP_001225.1:p.Cys106AlafsTer6
NM_033337.3:c.315del MANE Select NP_203123.1:p.Cys106AlafsTer6
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