Canonical Allele Identifier: CA911555058

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1203584186
• MyVariant Identifiers: chr3:g.8775704_8775705insC (hg19) ; chr3:g.8734018_8734019insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734019dup , CM000665.2:g.8734019dup	GRCh38
NC_000003.11:g.8775705dup , CM000665.1:g.8775705dup	GRCh37
NC_000003.10:g.8750705dup	NCBI36
NG_008797.2:g.5210dup , LRG_329:g.5210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+29dup (CAV3) MANE Select	ENSP00000341940.2:n.114+29dup
ENST00000343849.2:c.114+29dup (CAV3)	ENSP00000341940.2:n.114+29dup
ENST00000397368.2:c.114+29dup (CAV3)	ENSP00000380525.2:n.114+29dup
ENST00000435138.5:c.64+8440dup (SSUH2)	ENSP00000412333.1:n.64+8440dup
ENST00000472766.1:n.155+29dup (CAV3)
ENST00000478513.1:n.335+8440dup (SSUH2)
NM_001234.4:c.114+29dup (CAV3)	NP_001225.1:n.114+29dup
NM_033337.2:c.114+29dup , LRG_329t1:c.114+29dup (CAV3)	NP_203123.1:n.114+29dup
XR_940435.1:n.330+8440dup (SSUH2)
XM_017006530.1:c.-283+8440dup (SSUH2)	XP_016862019.1:n.-283+8440dup
NM_001234.5:c.114+29dup (CAV3)	NP_001225.1:n.114+29dup
NM_033337.3:c.114+29dup (CAV3) MANE Select	NP_203123.1:n.114+29dup