Canonical Allele Identifier: CA1344403891

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741676_8741677delinsAC , CM000665.2:g.8741676_8741677delinsAC	GRCh38
NC_000003.11:g.8783362_8783363delinsAC , CM000665.1:g.8783362_8783363delinsAC	GRCh37
NC_000003.10:g.8758362_8758363delinsAC	NCBI36
NG_008797.2:g.12867_12868delinsAC , LRG_329:g.12867_12868delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3850_115-3849delinsAC (CAV3) MANE Select	ENSP00000341940.2:n.115-3850_115-3849delinsAC
ENST00000343849.2:c.115-3850_115-3849delinsAC (CAV3)	ENSP00000341940.2:n.115-3850_115-3849delinsAC
ENST00000397368.2:c.115-3850_115-3849delinsAC (CAV3)	ENSP00000380525.2:n.115-3850_115-3849delinsAC
ENST00000435138.5:c.64+782_64+783delinsGT (SSUH2)	ENSP00000412333.1:n.64+782_64+783delinsGT
ENST00000472766.1:n.155+7686_155+7687delinsAC (CAV3)
ENST00000478513.1:n.335+782_335+783delinsGT (SSUH2)
NM_001234.4:c.115-3850_115-3849delinsAC (CAV3)	NP_001225.1:n.115-3850_115-3849delinsAC
NM_033337.2:c.115-3850_115-3849delinsAC , LRG_329t1:c.115-3850_115-3849delinsAC (CAV3)	NP_203123.1:n.115-3850_115-3849delinsAC
XR_940435.1:n.330+782_330+783delinsGT (SSUH2)
XM_017006530.1:c.-283+782_-283+783delinsGT (SSUH2)	XP_016862019.1:n.-283+782_-283+783delinsGT
NM_001234.5:c.115-3850_115-3849delinsAC (CAV3)	NP_001225.1:n.115-3850_115-3849delinsAC
NM_033337.3:c.115-3850_115-3849delinsAC (CAV3) MANE Select	NP_203123.1:n.115-3850_115-3849delinsAC