Canonical Allele Identifier: CA1344403920

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707966088

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741749_8741767del , CM000665.2:g.8741749_8741767del	GRCh38
NC_000003.11:g.8783435_8783453del , CM000665.1:g.8783435_8783453del	GRCh37
NC_000003.10:g.8758435_8758453del	NCBI36
NG_008797.2:g.12940_12958del , LRG_329:g.12940_12958del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3777_115-3759del (CAV3) MANE Select	ENSP00000341940.2:n.115-3777_115-3759del
ENST00000343849.2:c.115-3777_115-3759del (CAV3)	ENSP00000341940.2:n.115-3777_115-3759del
ENST00000397368.2:c.115-3777_115-3759del (CAV3)	ENSP00000380525.2:n.115-3777_115-3759del
ENST00000435138.5:c.64+695_64+713del (SSUH2)	ENSP00000412333.1:n.64+695_64+713del
ENST00000472766.1:n.155+7759_155+7777del (CAV3)
ENST00000478513.1:n.335+695_335+713del (SSUH2)
NM_001234.4:c.115-3777_115-3759del (CAV3)	NP_001225.1:n.115-3777_115-3759del
NM_033337.2:c.115-3777_115-3759del , LRG_329t1:c.115-3777_115-3759del (CAV3)	NP_203123.1:n.115-3777_115-3759del
XR_940435.1:n.330+695_330+713del (SSUH2)
XM_017006530.1:c.-283+695_-283+713del (SSUH2)	XP_016862019.1:n.-283+695_-283+713del
NM_001234.5:c.115-3777_115-3759del (CAV3)	NP_001225.1:n.115-3777_115-3759del
NM_033337.3:c.115-3777_115-3759del (CAV3) MANE Select	NP_203123.1:n.115-3777_115-3759del