Canonical Allele Identifier: CA69865004

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs996569692
• gnomAD v3: 3-8738676-CAA-C
• gnomAD v4: 3-8738676-CAA-C
• MyVariant Identifiers: chr3:g.8780363_8780364del (hg19) ; chr3:g.8738677_8738678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738678_8738679del , CM000665.2:g.8738678_8738679del	GRCh38
NC_000003.11:g.8780364_8780365del , CM000665.1:g.8780364_8780365del	GRCh37
NC_000003.10:g.8755364_8755365del	NCBI36
NG_008797.2:g.9869_9870del , LRG_329:g.9869_9870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4688_114+4689del (CAV3) MANE Select	ENSP00000341940.2:n.114+4688_114+4689del
ENST00000343849.2:c.114+4688_114+4689del (CAV3)	ENSP00000341940.2:n.114+4688_114+4689del
ENST00000397368.2:c.114+4688_114+4689del (CAV3)	ENSP00000380525.2:n.114+4688_114+4689del
ENST00000435138.5:c.64+3781_64+3782del (SSUH2)	ENSP00000412333.1:n.64+3781_64+3782del
ENST00000472766.1:n.155+4688_155+4689del (CAV3)
ENST00000478513.1:n.335+3781_335+3782del (SSUH2)
NM_001234.4:c.114+4688_114+4689del (CAV3)	NP_001225.1:n.114+4688_114+4689del
NM_033337.2:c.114+4688_114+4689del , LRG_329t1:c.114+4688_114+4689del (CAV3)	NP_203123.1:n.114+4688_114+4689del
XR_940435.1:n.330+3781_330+3782del (SSUH2)
XM_017006530.1:c.-283+3781_-283+3782del (SSUH2)	XP_016862019.1:n.-283+3781_-283+3782del
NM_001234.5:c.114+4688_114+4689del (CAV3)	NP_001225.1:n.114+4688_114+4689del
NM_033337.3:c.114+4688_114+4689del (CAV3) MANE Select	NP_203123.1:n.114+4688_114+4689del