Canonical Allele Identifier: CA911558605

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1157959188
• gnomAD v3: 3-8738869-A-ATCAGCTAG
• gnomAD v4: 3-8738869-A-ATCAGCTAG
• MyVariant Identifiers: chr3:g.8780555_8780556insTCAGCTAG (hg19) ; chr3:g.8738869_8738870insTCAGCTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738873_8738880dup , CM000665.2:g.8738873_8738880dup	GRCh38
NC_000003.11:g.8780559_8780566dup , CM000665.1:g.8780559_8780566dup	GRCh37
NC_000003.10:g.8755559_8755566dup	NCBI36
NG_008797.2:g.10064_10071dup , LRG_329:g.10064_10071dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4883_114+4890dup (CAV3) MANE Select	ENSP00000341940.2:n.114+4883_114+4890dup
ENST00000343849.2:c.114+4883_114+4890dup (CAV3)	ENSP00000341940.2:n.114+4883_114+4890dup
ENST00000397368.2:c.114+4883_114+4890dup (CAV3)	ENSP00000380525.2:n.114+4883_114+4890dup
ENST00000435138.5:c.64+3582_64+3589dup (SSUH2)	ENSP00000412333.1:n.64+3582_64+3589dup
ENST00000472766.1:n.155+4883_155+4890dup (CAV3)
ENST00000478513.1:n.335+3582_335+3589dup (SSUH2)
NM_001234.4:c.114+4883_114+4890dup (CAV3)	NP_001225.1:n.114+4883_114+4890dup
NM_033337.2:c.114+4883_114+4890dup , LRG_329t1:c.114+4883_114+4890dup (CAV3)	NP_203123.1:n.114+4883_114+4890dup
XR_940435.1:n.330+3582_330+3589dup (SSUH2)
XM_017006530.1:c.-283+3582_-283+3589dup (SSUH2)	XP_016862019.1:n.-283+3582_-283+3589dup
NM_001234.5:c.114+4883_114+4890dup (CAV3)	NP_001225.1:n.114+4883_114+4890dup
NM_033337.3:c.114+4883_114+4890dup (CAV3) MANE Select	NP_203123.1:n.114+4883_114+4890dup