Canonical Allele Identifier: CA231755

Linked Data

ClinVar Variation Id: 132982
ClinVar RCV Id: RCV000119392
dbSNP Id: rs199476323

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733889dup , CM000665.2:g.8733889dup GRCh38
NC_000003.11:g.8775575dup , CM000665.1:g.8775575dup GRCh37
NC_000003.10:g.8750575dup NCBI36
NG_008797.2:g.5080dup , LRG_329:g.5080dup

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.13dup (CAV3) MANE Select ENSP00000341940.2:p.Glu5GlyfsTer19
ENST00000343849.2:c.13dup (CAV3) ENSP00000341940.2:p.Glu5GlyfsTer19
ENST00000397368.2:c.13dup (CAV3) ENSP00000380525.2:p.Glu5GlyfsTer19
ENST00000435138.5:c.64+8570dup (SSUH2) ENSP00000412333.1:n.64+8570dup
ENST00000472766.1:n.54dup (CAV3)
ENST00000478513.1:n.335+8570dup (SSUH2)
NM_001234.4:c.13dup (CAV3) NP_001225.1:p.Glu5GlyfsTer19
NM_033337.2:c.13dup , LRG_329t1:c.13dup (CAV3) NP_203123.1:p.Glu5GlyfsTer19
XR_940435.1:n.330+8570dup (SSUH2)
XM_017006530.1:c.-283+8570dup (SSUH2) XP_016862019.1:n.-283+8570dup
NM_001234.5:c.13dup (CAV3) NP_001225.1:p.Glu5GlyfsTer19
NM_033337.3:c.13dup (CAV3) MANE Select NP_203123.1:p.Glu5GlyfsTer19