Canonical Allele Identifier: CA1344403907

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741711_8741721delinsTGGATGCCTAC , CM000665.2:g.8741711_8741721delinsTGGATGCCTAC	GRCh38
NC_000003.11:g.8783397_8783407delinsTGGATGCCTAC , CM000665.1:g.8783397_8783407delinsTGGATGCCTAC	GRCh37
NC_000003.10:g.8758397_8758407delinsTGGATGCCTAC	NCBI36
NG_008797.2:g.12902_12912delinsTGGATGCCTAC , LRG_329:g.12902_12912delinsTGGATGCCTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3) MANE Select	ENSP00000341940.2:n.115-3815_115-3805deli...
ENST00000343849.2:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3)	ENSP00000341940.2:n.115-3815_115-3805deli...
ENST00000397368.2:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3)	ENSP00000380525.2:n.115-3815_115-3805deli...
ENST00000435138.5:c.64+738_64+748delinsGTAGGCATCCA (SSUH2)	ENSP00000412333.1:n.64+738_64+748delinsGT...
ENST00000472766.1:n.155+7721_155+7731delinsTGGATGCCTAC (CAV3)
ENST00000478513.1:n.335+738_335+748delinsGTAGGCATCCA (SSUH2)
NM_001234.4:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3)	NP_001225.1:n.115-3815_115-3805delinsTGGA...
NM_033337.2:c.115-3815_115-3805delinsTGGATGCCTAC , LRG_329t1:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3)	NP_203123.1:n.115-3815_115-3805delinsTGGA...
XR_940435.1:n.330+738_330+748delinsGTAGGCATCCA (SSUH2)
XM_017006530.1:c.-283+738_-283+748delinsGTAGGCATCCA (SSUH2)	XP_016862019.1:n.-283+738_-283+748delinsG...
NM_001234.5:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3)	NP_001225.1:n.115-3815_115-3805delinsTGGA...
NM_033337.3:c.115-3815_115-3805delinsTGGATGCCTAC (CAV3) MANE Select	NP_203123.1:n.115-3815_115-3805delinsTGGA...