Canonical Allele Identifier: CA2664270018

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8734019-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734019_8734020insCT , CM000665.2:g.8734019_8734020insCT	GRCh38
NC_000003.11:g.8775705_8775706insCT , CM000665.1:g.8775705_8775706insCT	GRCh37
NC_000003.10:g.8750705_8750706insCT	NCBI36
NG_008797.2:g.5210_5211insCT , LRG_329:g.5210_5211insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+29_114+30insCT (CAV3) MANE Select	ENSP00000341940.2:n.114+29_114+30insCT
ENST00000343849.2:c.114+29_114+30insCT (CAV3)	ENSP00000341940.2:n.114+29_114+30insCT
ENST00000397368.2:c.114+29_114+30insCT (CAV3)	ENSP00000380525.2:n.114+29_114+30insCT
ENST00000435138.5:c.64+8439_64+8440insAG (SSUH2)	ENSP00000412333.1:n.64+8439_64+8440insAG
ENST00000472766.1:n.155+29_155+30insCT (CAV3)
ENST00000478513.1:n.335+8439_335+8440insAG (SSUH2)
NM_001234.4:c.114+29_114+30insCT (CAV3)	NP_001225.1:n.114+29_114+30insCT
NM_033337.2:c.114+29_114+30insCT , LRG_329t1:c.114+29_114+30insCT (CAV3)	NP_203123.1:n.114+29_114+30insCT
XR_940435.1:n.330+8439_330+8440insAG (SSUH2)
XM_017006530.1:c.-283+8439_-283+8440insAG (SSUH2)	XP_016862019.1:n.-283+8439_-283+8440insAG
NM_001234.5:c.114+29_114+30insCT (CAV3)	NP_001225.1:n.114+29_114+30insCT
NM_033337.3:c.114+29_114+30insCT (CAV3) MANE Select	NP_203123.1:n.114+29_114+30insCT