Canonical Allele Identifier: CA1344402380

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738804_8738831delinsCAATGGATCACAGCACTGCTCCATGACT , CM000665.2:g.8738804_8738831delinsCAATGGATCACAGCACTGCTCCATGACT	GRCh38
NC_000003.11:g.8780490_8780517delinsCAATGGATCACAGCACTGCTCCATGACT , CM000665.1:g.8780490_8780517delinsCAATGGATCACAGCACTGCTCCATGACT	GRCh37
NC_000003.10:g.8755490_8755517delinsCAATGGATCACAGCACTGCTCCATGACT	NCBI36
NG_008797.2:g.9995_10022delinsCAATGGATCACAGCACTGCTCCATGACT , LRG_329:g.9995_10022delinsCAATGGATCACAGCACTGCTCCATGACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3) MANE Select	ENSP00000341940.2:n.114+4814_114+4841deli...
ENST00000343849.2:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)	ENSP00000341940.2:n.114+4814_114+4841deli...
ENST00000397368.2:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)	ENSP00000380525.2:n.114+4814_114+4841deli...
ENST00000435138.5:c.64+3628_64+3655delinsAGTCATGGAGCAGTGCTGTGATCCATTG (SSUH2)	ENSP00000412333.1:n.64+3628_64+3655delins...
ENST00000472766.1:n.155+4814_155+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)
ENST00000478513.1:n.335+3628_335+3655delinsAGTCATGGAGCAGTGCTGTGATCCATTG (SSUH2)
NM_001234.4:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)	NP_001225.1:n.114+4814_114+4841delinsCAAT...
NM_033337.2:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT , LRG_329t1:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)	NP_203123.1:n.114+4814_114+4841delinsCAAT...
XR_940435.1:n.330+3628_330+3655delinsAGTCATGGAGCAGTGCTGTGATCCATTG (SSUH2)
XM_017006530.1:c.-283+3628_-283+3655delinsAGTCATGGAGCAGTGCTGTGATCCATTG (SSUH2)	XP_016862019.1:n.-283+3628_-283+3655delin...
NM_001234.5:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3)	NP_001225.1:n.114+4814_114+4841delinsCAAT...
NM_033337.3:c.114+4814_114+4841delinsCAATGGATCACAGCACTGCTCCATGACT (CAV3) MANE Select	NP_203123.1:n.114+4814_114+4841delinsCAAT...