Canonical Allele Identifier: CA1344404167

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707989414

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8742239_8742243dup , CM000665.2:g.8742239_8742243dup	GRCh38
NC_000003.11:g.8783925_8783929dup , CM000665.1:g.8783925_8783929dup	GRCh37
NC_000003.10:g.8758925_8758929dup	NCBI36
NG_008797.2:g.13430_13434dup , LRG_329:g.13430_13434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3287_115-3283dup (CAV3) MANE Select	ENSP00000341940.2:n.115-3287_115-3283dup
ENST00000343849.2:c.115-3287_115-3283dup (CAV3)	ENSP00000341940.2:n.115-3287_115-3283dup
ENST00000397368.2:c.115-3287_115-3283dup (CAV3)	ENSP00000380525.2:n.115-3287_115-3283dup
ENST00000435138.5:c.64+226_64+230dup (SSUH2)	ENSP00000412333.1:n.64+226_64+230dup
ENST00000472766.1:n.155+8249_155+8253dup (CAV3)
ENST00000478513.1:n.335+226_335+230dup (SSUH2)
NM_001234.4:c.115-3287_115-3283dup (CAV3)	NP_001225.1:n.115-3287_115-3283dup
NM_033337.2:c.115-3287_115-3283dup , LRG_329t1:c.115-3287_115-3283dup (CAV3)	NP_203123.1:n.115-3287_115-3283dup
XR_940435.1:n.330+226_330+230dup (SSUH2)
XM_017006530.1:c.-283+226_-283+230dup (SSUH2)	XP_016862019.1:n.-283+226_-283+230dup
NM_001234.5:c.115-3287_115-3283dup (CAV3)	NP_001225.1:n.115-3287_115-3283dup
NM_033337.3:c.115-3287_115-3283dup (CAV3) MANE Select	NP_203123.1:n.115-3287_115-3283dup