Canonical Allele Identifier: CA1344403948

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707968366

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741794_8741801dup , CM000665.2:g.8741794_8741801dup	GRCh38
NC_000003.11:g.8783480_8783487dup , CM000665.1:g.8783480_8783487dup	GRCh37
NC_000003.10:g.8758480_8758487dup	NCBI36
NG_008797.2:g.12985_12992dup , LRG_329:g.12985_12992dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3732_115-3725dup (CAV3) MANE Select	ENSP00000341940.2:n.115-3732_115-3725dup
ENST00000343849.2:c.115-3732_115-3725dup (CAV3)	ENSP00000341940.2:n.115-3732_115-3725dup
ENST00000397368.2:c.115-3732_115-3725dup (CAV3)	ENSP00000380525.2:n.115-3732_115-3725dup
ENST00000435138.5:c.64+660_64+667dup (SSUH2)	ENSP00000412333.1:n.64+660_64+667dup
ENST00000472766.1:n.155+7804_155+7811dup (CAV3)
ENST00000478513.1:n.335+660_335+667dup (SSUH2)
NM_001234.4:c.115-3732_115-3725dup (CAV3)	NP_001225.1:n.115-3732_115-3725dup
NM_033337.2:c.115-3732_115-3725dup , LRG_329t1:c.115-3732_115-3725dup (CAV3)	NP_203123.1:n.115-3732_115-3725dup
XR_940435.1:n.330+660_330+667dup (SSUH2)
XM_017006530.1:c.-283+660_-283+667dup (SSUH2)	XP_016862019.1:n.-283+660_-283+667dup
NM_001234.5:c.115-3732_115-3725dup (CAV3)	NP_001225.1:n.115-3732_115-3725dup
NM_033337.3:c.115-3732_115-3725dup (CAV3) MANE Select	NP_203123.1:n.115-3732_115-3725dup