Canonical Allele Identifier: CA2236277

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs750675944
• ExAC: 3:8775582 C / CAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCA
• gnomAD v2: 3-8775582-C-CAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCA
• gnomAD v4: 3-8733896-C-CAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCA
• MyVariant Identifiers: chr3:g.8775582_8775583insAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCA (hg19) ; chr3:g.8733896_8733897insAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733899_8733936dup , CM000665.2:g.8733899_8733936dup	GRCh38
NC_000003.11:g.8775585_8775622dup , CM000665.1:g.8775585_8775622dup	GRCh37
NC_000003.10:g.8750585_8750622dup	NCBI36
NG_008797.2:g.5090_5127dup , LRG_329:g.5090_5127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.23_60dup (CAV3) MANE Select	ENSP00000341940.2:p.Glu21IlefsTer18
ENST00000343849.2:c.23_60dup (CAV3)	ENSP00000341940.2:p.Glu21IlefsTer18
ENST00000397368.2:c.23_60dup (CAV3)	ENSP00000380525.2:p.Glu21IlefsTer18
ENST00000435138.5:c.64+8525_64+8562dup (SSUH2)	ENSP00000412333.1:n.64+8525_64+8562dup
ENST00000472766.1:n.64_101dup (CAV3)
ENST00000478513.1:n.335+8525_335+8562dup (SSUH2)
NM_001234.4:c.23_60dup (CAV3)	NP_001225.1:p.Glu21IlefsTer18
NM_033337.2:c.23_60dup , LRG_329t1:c.23_60dup (CAV3)	NP_203123.1:p.Glu21IlefsTer18
XR_940435.1:n.330+8525_330+8562dup (SSUH2)
XM_017006530.1:c.-283+8525_-283+8562dup (SSUH2)	XP_016862019.1:n.-283+8525_-283+8562dup
NM_001234.5:c.23_60dup (CAV3)	NP_001225.1:p.Glu21IlefsTer18
NM_033337.3:c.23_60dup (CAV3) MANE Select	NP_203123.1:p.Glu21IlefsTer18