Canonical Allele Identifier: CA1344397508

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734310_8734311delinsAC , CM000665.2:g.8734310_8734311delinsAC	GRCh38
NC_000003.11:g.8775996_8775997delinsAC , CM000665.1:g.8775996_8775997delinsAC	GRCh37
NC_000003.10:g.8750996_8750997delinsAC	NCBI36
NG_008797.2:g.5501_5502delinsAC , LRG_329:g.5501_5502delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+320_114+321delinsAC (CAV3) MANE Select	ENSP00000341940.2:n.114+320_114+321delinsAC
ENST00000343849.2:c.114+320_114+321delinsAC (CAV3)	ENSP00000341940.2:n.114+320_114+321delinsAC
ENST00000397368.2:c.114+320_114+321delinsAC (CAV3)	ENSP00000380525.2:n.114+320_114+321delinsAC
ENST00000435138.5:c.64+8148_64+8149delinsGT (SSUH2)	ENSP00000412333.1:n.64+8148_64+8149delinsGT
ENST00000472766.1:n.155+320_155+321delinsAC (CAV3)
ENST00000478513.1:n.335+8148_335+8149delinsGT (SSUH2)
NM_001234.4:c.114+320_114+321delinsAC (CAV3)	NP_001225.1:n.114+320_114+321delinsAC
NM_033337.2:c.114+320_114+321delinsAC , LRG_329t1:c.114+320_114+321delinsAC (CAV3)	NP_203123.1:n.114+320_114+321delinsAC
XR_940435.1:n.330+8148_330+8149delinsGT (SSUH2)
XM_017006530.1:c.-283+8148_-283+8149delinsGT (SSUH2)	XP_016862019.1:n.-283+8148_-283+8149delinsGT
NM_001234.5:c.114+320_114+321delinsAC (CAV3)	NP_001225.1:n.114+320_114+321delinsAC
NM_033337.3:c.114+320_114+321delinsAC (CAV3) MANE Select	NP_203123.1:n.114+320_114+321delinsAC