Canonical Allele Identifier: CA69870429
Gene: CAV3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs116840802

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745701_8745704del , CM000665.2:g.8745701_8745704del GRCh38
NC_000003.11:g.8787387_8787390del , CM000665.1:g.8787387_8787390del GRCh37
NC_000003.10:g.8762387_8762390del NCBI36
NG_008797.2:g.16892_16895del , LRG_329:g.16892_16895del

Transcript Alleles

HGVS Amino-acid change
NM_001234.4:c.290_293del VV NP_001225.1:p.Phe97SerfsTer14
NM_033337.2:c.290_293del , LRG_329t1:c.290_293del NP_203123.1:p.Phe97SerfsTer14
ENST00000343849.2:c.290_293del ENSP00000341940.2:p.Phe97SerfsTer14
ENST00000397368.2:c.290_293del ENSP00000380525.2:p.Phe97SerfsTer14
ENST00000472766.1:n.155+11711_155+11714del