Canonical Allele Identifier: CA2236276

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 290919
• ClinVar RCV Id: RCV000381159 ; RCV000465696
• dbSNP Id: rs778914298
• ExAC: 3:8775568 GGCAGAAGA / G
• gnomAD v2: 3-8775568-GGCAGAAGA-G
• gnomAD v3: 3-8733882-GGCAGAAGA-G
• gnomAD v4: 3-8733882-GGCAGAAGA-G
• MyVariant Identifiers: chr3:g.8775572_8775579del (hg19) ; chr3:g.8775569_8775576del (hg19) ; chr3:g.8733886_8733893del (hg38) ; chr3:g.8733883_8733890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733886_8733893del , CM000665.2:g.8733886_8733893del	GRCh38
NC_000003.11:g.8775572_8775579del , CM000665.1:g.8775572_8775579del	GRCh37
NC_000003.10:g.8750572_8750579del	NCBI36
NG_008797.2:g.5077_5084del , LRG_329:g.5077_5084del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.10_17del (CAV3) MANE Select	ENSP00000341940.2:p.Glu4HisfsTer17
ENST00000343849.2:c.10_17del (CAV3)	ENSP00000341940.2:p.Glu4HisfsTer17
ENST00000397368.2:c.10_17del (CAV3)	ENSP00000380525.2:p.Glu4HisfsTer17
ENST00000435138.5:c.64+8569_64+8576del (SSUH2)	ENSP00000412333.1:n.64+8569_64+8576del
ENST00000472766.1:n.51_58del (CAV3)
ENST00000478513.1:n.335+8569_335+8576del (SSUH2)
NM_001234.4:c.10_17del (CAV3)	NP_001225.1:p.Glu4HisfsTer17
NM_033337.2:c.10_17del , LRG_329t1:c.10_17del (CAV3)	NP_203123.1:p.Glu4HisfsTer17
XR_940435.1:n.330+8569_330+8576del (SSUH2)
XM_017006530.1:c.-283+8569_-283+8576del (SSUH2)	XP_016862019.1:n.-283+8569_-283+8576del
NM_001234.5:c.10_17del (CAV3)	NP_001225.1:p.Glu4HisfsTer17
NM_033337.3:c.10_17del (CAV3) MANE Select	NP_203123.1:p.Glu4HisfsTer17