Canonical Allele Identifier: CA69862014

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs766559347
• gnomAD v2: 3-8775834-C-CA
• gnomAD v3: 3-8734148-C-CA
• gnomAD v4: 3-8734148-C-CA
• MyVariant Identifiers: chr3:g.8775834_8775835insA (hg19) ; chr3:g.8734148_8734149insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734155dup , CM000665.2:g.8734155dup	GRCh38
NC_000003.11:g.8775841dup , CM000665.1:g.8775841dup	GRCh37
NC_000003.10:g.8750841dup	NCBI36
NG_008797.2:g.5346dup , LRG_329:g.5346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+165dup (CAV3) MANE Select	ENSP00000341940.2:n.114+165dup
ENST00000343849.2:c.114+165dup (CAV3)	ENSP00000341940.2:n.114+165dup
ENST00000397368.2:c.114+165dup (CAV3)	ENSP00000380525.2:n.114+165dup
ENST00000435138.5:c.64+8310dup (SSUH2)	ENSP00000412333.1:n.64+8310dup
ENST00000472766.1:n.155+165dup (CAV3)
ENST00000478513.1:n.335+8310dup (SSUH2)
NM_001234.4:c.114+165dup (CAV3)	NP_001225.1:n.114+165dup
NM_033337.2:c.114+165dup , LRG_329t1:c.114+165dup (CAV3)	NP_203123.1:n.114+165dup
XR_940435.1:n.330+8310dup (SSUH2)
XM_017006530.1:c.-283+8310dup (SSUH2)	XP_016862019.1:n.-283+8310dup
NM_001234.5:c.114+165dup (CAV3)	NP_001225.1:n.114+165dup
NM_033337.3:c.114+165dup (CAV3) MANE Select	NP_203123.1:n.114+165dup