Canonical Allele Identifier: CA69866876
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs34571648
MyVariant Identifiers: chr3:g.8783334_8783335insC (hg19) chr3:g.8741648_8741649insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741652dup , CM000665.2:g.8741652dup GRCh38
NC_000003.11:g.8783338dup , CM000665.1:g.8783338dup GRCh37
NC_000003.10:g.8758338dup NCBI36
NG_008797.2:g.12843dup , LRG_329:g.12843dup

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3874dup (CAV3) MANE Select ENSP00000341940.2:n.115-3874dup
ENST00000343849.2:c.115-3874dup (CAV3) ENSP00000341940.2:n.115-3874dup
ENST00000397368.2:c.115-3874dup (CAV3) ENSP00000380525.2:n.115-3874dup
ENST00000435138.5:c.64+810dup (SSUH2) ENSP00000412333.1:n.64+810dup
ENST00000472766.1:n.155+7662dup (CAV3)
ENST00000478513.1:n.335+810dup (SSUH2)
NM_001234.4:c.115-3874dup (CAV3) NP_001225.1:n.115-3874dup
NM_033337.2:c.115-3874dup , LRG_329t1:c.115-3874dup (CAV3) NP_203123.1:n.115-3874dup
XR_940435.1:n.330+810dup (SSUH2)
XM_017006530.1:c.-283+810dup (SSUH2) XP_016862019.1:n.-283+810dup
NM_001234.5:c.115-3874dup (CAV3) NP_001225.1:n.115-3874dup
NM_033337.3:c.115-3874dup (CAV3) MANE Select NP_203123.1:n.115-3874dup
Search 100 bp 5'
Search 100 bp 3'