Canonical Allele Identifier: CA1344402386

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707846840

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738804_8738805insT , CM000665.2:g.8738804_8738805insT	GRCh38
NC_000003.11:g.8780490_8780491insT , CM000665.1:g.8780490_8780491insT	GRCh37
NC_000003.10:g.8755490_8755491insT	NCBI36
NG_008797.2:g.9995_9996insT , LRG_329:g.9995_9996insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4814_114+4815insT (CAV3) MANE Select	ENSP00000341940.2:n.114+4814_114+4815insT...
ENST00000343849.2:c.114+4814_114+4815insT (CAV3)	ENSP00000341940.2:n.114+4814_114+4815insT...
ENST00000397368.2:c.114+4814_114+4815insT (CAV3)	ENSP00000380525.2:n.114+4814_114+4815insT...
ENST00000435138.5:c.64+3654_64+3655insA (SSUH2)	ENSP00000412333.1:n.64+3654_64+3655insA
ENST00000472766.1:n.155+4814_155+4815insT (CAV3)
ENST00000478513.1:n.335+3654_335+3655insA (SSUH2)
NM_001234.4:c.114+4814_114+4815insT (CAV3)	NP_001225.1:n.114+4814_114+4815insT
NM_033337.2:c.114+4814_114+4815insT , LRG_329t1:c.114+4814_114+4815insT (CAV3)	NP_203123.1:n.114+4814_114+4815insT
XR_940435.1:n.330+3654_330+3655insA (SSUH2)
XM_017006530.1:c.-283+3654_-283+3655insA (SSUH2)	XP_016862019.1:n.-283+3654_-283+3655insA
NM_001234.5:c.114+4814_114+4815insT (CAV3)	NP_001225.1:n.114+4814_114+4815insT
NM_033337.3:c.114+4814_114+4815insT (CAV3) MANE Select	NP_203123.1:n.114+4814_114+4815insT