Canonical Allele Identifier: CA911560933

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1159780698
• gnomAD v3: 3-8741764-C-CG
• gnomAD v4: 3-8741764-C-CG
• MyVariant Identifiers: chr3:g.8783450_8783451insG (hg19) ; chr3:g.8741764_8741765insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741767dup , CM000665.2:g.8741767dup	GRCh38
NC_000003.11:g.8783453dup , CM000665.1:g.8783453dup	GRCh37
NC_000003.10:g.8758453dup	NCBI36
NG_008797.2:g.12958dup , LRG_329:g.12958dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3759dup (CAV3) MANE Select	ENSP00000341940.2:n.115-3759dup
ENST00000343849.2:c.115-3759dup (CAV3)	ENSP00000341940.2:n.115-3759dup
ENST00000397368.2:c.115-3759dup (CAV3)	ENSP00000380525.2:n.115-3759dup
ENST00000435138.5:c.64+694dup (SSUH2)	ENSP00000412333.1:n.64+694dup
ENST00000472766.1:n.155+7777dup (CAV3)
ENST00000478513.1:n.335+694dup (SSUH2)
NM_001234.4:c.115-3759dup (CAV3)	NP_001225.1:n.115-3759dup
NM_033337.2:c.115-3759dup , LRG_329t1:c.115-3759dup (CAV3)	NP_203123.1:n.115-3759dup
XR_940435.1:n.330+694dup (SSUH2)
XM_017006530.1:c.-283+694dup (SSUH2)	XP_016862019.1:n.-283+694dup
NM_001234.5:c.115-3759dup (CAV3)	NP_001225.1:n.115-3759dup
NM_033337.3:c.115-3759dup (CAV3) MANE Select	NP_203123.1:n.115-3759dup