Canonical Allele Identifier: CA1344402391

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707847212

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738810_8738816dup , CM000665.2:g.8738810_8738816dup	GRCh38
NC_000003.11:g.8780496_8780502dup , CM000665.1:g.8780496_8780502dup	GRCh37
NC_000003.10:g.8755496_8755502dup	NCBI36
NG_008797.2:g.10001_10007dup , LRG_329:g.10001_10007dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4820_114+4826dup (CAV3) MANE Select	ENSP00000341940.2:n.114+4820_114+4826dup
ENST00000343849.2:c.114+4820_114+4826dup (CAV3)	ENSP00000341940.2:n.114+4820_114+4826dup
ENST00000397368.2:c.114+4820_114+4826dup (CAV3)	ENSP00000380525.2:n.114+4820_114+4826dup
ENST00000435138.5:c.64+3644_64+3650dup (SSUH2)	ENSP00000412333.1:n.64+3644_64+3650dup
ENST00000472766.1:n.155+4820_155+4826dup (CAV3)
ENST00000478513.1:n.335+3644_335+3650dup (SSUH2)
NM_001234.4:c.114+4820_114+4826dup (CAV3)	NP_001225.1:n.114+4820_114+4826dup
NM_033337.2:c.114+4820_114+4826dup , LRG_329t1:c.114+4820_114+4826dup (CAV3)	NP_203123.1:n.114+4820_114+4826dup
XR_940435.1:n.330+3644_330+3650dup (SSUH2)
XM_017006530.1:c.-283+3644_-283+3650dup (SSUH2)	XP_016862019.1:n.-283+3644_-283+3650dup
NM_001234.5:c.114+4820_114+4826dup (CAV3)	NP_001225.1:n.114+4820_114+4826dup
NM_033337.3:c.114+4820_114+4826dup (CAV3) MANE Select	NP_203123.1:n.114+4820_114+4826dup