Canonical Allele Identifier: CA1344402081

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707836625

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738433_8738434del , CM000665.2:g.8738433_8738434del	GRCh38
NC_000003.11:g.8780119_8780120del , CM000665.1:g.8780119_8780120del	GRCh37
NC_000003.10:g.8755119_8755120del	NCBI36
NG_008797.2:g.9624_9625del , LRG_329:g.9624_9625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+4443_114+4444del (CAV3) MANE Select	ENSP00000341940.2:n.114+4443_114+4444del
ENST00000343849.2:c.114+4443_114+4444del (CAV3)	ENSP00000341940.2:n.114+4443_114+4444del
ENST00000397368.2:c.114+4443_114+4444del (CAV3)	ENSP00000380525.2:n.114+4443_114+4444del
ENST00000435138.5:c.64+4026_64+4027del (SSUH2)	ENSP00000412333.1:n.64+4026_64+4027del
ENST00000472766.1:n.155+4443_155+4444del (CAV3)
ENST00000478513.1:n.335+4026_335+4027del (SSUH2)
NM_001234.4:c.114+4443_114+4444del (CAV3)	NP_001225.1:n.114+4443_114+4444del
NM_033337.2:c.114+4443_114+4444del , LRG_329t1:c.114+4443_114+4444del (CAV3)	NP_203123.1:n.114+4443_114+4444del
XR_940435.1:n.330+4026_330+4027del (SSUH2)
XM_017006530.1:c.-283+4026_-283+4027del (SSUH2)	XP_016862019.1:n.-283+4026_-283+4027del
NM_001234.5:c.114+4443_114+4444del (CAV3)	NP_001225.1:n.114+4443_114+4444del
NM_033337.3:c.114+4443_114+4444del (CAV3) MANE Select	NP_203123.1:n.114+4443_114+4444del