Canonical Allele Identifier: CA540845545

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1312287421
• gnomAD v2: 3-8775810-A-AC
• gnomAD v3: 3-8734124-A-AC
• gnomAD v4: 3-8734124-A-AC
• MyVariant Identifiers: chr3:g.8775811_8775812insC (hg19) ; chr3:g.8775810_8775811insC (hg19) ; chr3:g.8734125_8734126insC (hg38) ; chr3:g.8734124_8734125insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734131dup , CM000665.2:g.8734131dup	GRCh38
NC_000003.11:g.8775817dup , CM000665.1:g.8775817dup	GRCh37
NC_000003.10:g.8750817dup	NCBI36
NG_008797.2:g.5322dup , LRG_329:g.5322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+141dup (CAV3) MANE Select	ENSP00000341940.2:n.114+141dup
ENST00000343849.2:c.114+141dup (CAV3)	ENSP00000341940.2:n.114+141dup
ENST00000397368.2:c.114+141dup (CAV3)	ENSP00000380525.2:n.114+141dup
ENST00000435138.5:c.64+8334dup (SSUH2)	ENSP00000412333.1:n.64+8334dup
ENST00000472766.1:n.155+141dup (CAV3)
ENST00000478513.1:n.335+8334dup (SSUH2)
NM_001234.4:c.114+141dup (CAV3)	NP_001225.1:n.114+141dup
NM_033337.2:c.114+141dup , LRG_329t1:c.114+141dup (CAV3)	NP_203123.1:n.114+141dup
XR_940435.1:n.330+8334dup (SSUH2)
XM_017006530.1:c.-283+8334dup (SSUH2)	XP_016862019.1:n.-283+8334dup
NM_001234.5:c.114+141dup (CAV3)	NP_001225.1:n.114+141dup
NM_033337.3:c.114+141dup (CAV3) MANE Select	NP_203123.1:n.114+141dup