Canonical Allele Identifier: CA215202
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31736
dbSNP Id: rs116840772

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745481_8745497del , CM000665.2:g.8745481_8745497del GRCh38
NC_000003.11:g.8787167_8787183del , CM000665.1:g.8787167_8787183del GRCh37
NC_000003.10:g.8762167_8762183del NCBI36
NG_008797.2:g.16672_16688del , LRG_329:g.16672_16688del

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-45_115-29del MANE Select ENSP00000341940.2:n.115-45_115-29del
ENST00000343849.2:c.115-45_115-29del ENSP00000341940.2:n.115-45_115-29del
ENST00000397368.2:c.115-45_115-29del ENSP00000380525.2:n.115-45_115-29del
ENST00000472766.1:n.155+11491_155+11507del
NM_001234.4:c.115-45_115-29del NP_001225.1:n.115-45_115-29del
NM_033337.2:c.115-45_115-29del , LRG_329t1:c.115-45_115-29del NP_203123.1:n.115-45_115-29del
NM_001234.5:c.115-45_115-29del NP_001225.1:n.115-45_115-29del
NM_033337.3:c.115-45_115-29del MANE Select NP_203123.1:n.115-45_115-29del