Canonical Allele Identifier: CA1344404116

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8742114_8742124delinsCAGCTGCCTAG , CM000665.2:g.8742114_8742124delinsCAGCTGCCTAG	GRCh38
NC_000003.11:g.8783800_8783810delinsCAGCTGCCTAG , CM000665.1:g.8783800_8783810delinsCAGCTGCCTAG	GRCh37
NC_000003.10:g.8758800_8758810delinsCAGCTGCCTAG	NCBI36
NG_008797.2:g.13305_13315delinsCAGCTGCCTAG , LRG_329:g.13305_13315delinsCAGCTGCCTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3) MANE Select	ENSP00000341940.2:n.115-3412_115-3402delinsCAGCTGCCTAG
ENST00000343849.2:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3)	ENSP00000341940.2:n.115-3412_115-3402delinsCAGCTGCCTAG
ENST00000397368.2:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3)	ENSP00000380525.2:n.115-3412_115-3402delinsCAGCTGCCTAG
ENST00000435138.5:c.64+335_64+345delinsCTAGGCAGCTG (SSUH2)	ENSP00000412333.1:n.64+335_64+345delinsCTAGGCAGCTG
ENST00000472766.1:n.155+8124_155+8134delinsCAGCTGCCTAG (CAV3)
ENST00000478513.1:n.335+335_335+345delinsCTAGGCAGCTG (SSUH2)
NM_001234.4:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3)	NP_001225.1:n.115-3412_115-3402delinsCAGCTGCCTAG
NM_033337.2:c.115-3412_115-3402delinsCAGCTGCCTAG , LRG_329t1:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3)	NP_203123.1:n.115-3412_115-3402delinsCAGCTGCCTAG
XR_940435.1:n.330+335_330+345delinsCTAGGCAGCTG (SSUH2)
XM_017006530.1:c.-283+335_-283+345delinsCTAGGCAGCTG (SSUH2)	XP_016862019.1:n.-283+335_-283+345delinsCTAGGCAGCTG
NM_001234.5:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3)	NP_001225.1:n.115-3412_115-3402delinsCAGCTGCCTAG
NM_033337.3:c.115-3412_115-3402delinsCAGCTGCCTAG (CAV3) MANE Select	NP_203123.1:n.115-3412_115-3402delinsCAGCTGCCTAG