Canonical Allele Identifier: CA658796224
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499100
ClinVar RCV Id: RCV000595250
dbSNP Id: rs1553614449
MyVariant Identifiers: chr3:g.8787463dup (hg19) chr3:g.8745777dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745777dup , CM000665.2:g.8745777dup GRCh38
NC_000003.11:g.8787463dup , CM000665.1:g.8787463dup GRCh37
NC_000003.10:g.8762463dup NCBI36
NG_008797.2:g.16968dup , LRG_329:g.16968dup

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.366dup MANE Select ENSP00000341940.2:p.Leu123ThrfsTer?
ENST00000343849.2:c.366dup ENSP00000341940.2:p.Leu123ThrfsTer?
ENST00000397368.2:c.366dup ENSP00000380525.2:p.Leu123ThrfsTer?
ENST00000472766.1:n.155+11787dup
NM_001234.4:c.366dup NP_001225.1:p.Leu123ThrfsTer?
NM_033337.2:c.366dup , LRG_329t1:c.366dup NP_203123.1:p.Leu123ThrfsTer?
NM_001234.5:c.366dup NP_001225.1:p.Leu123ThrfsTer?
NM_033337.3:c.366dup MANE Select NP_203123.1:p.Leu123ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'