Canonical Allele Identifier: CA2664270007

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8734003-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734003_8734004insA , CM000665.2:g.8734003_8734004insA	GRCh38
NC_000003.11:g.8775689_8775690insA , CM000665.1:g.8775689_8775690insA	GRCh37
NC_000003.10:g.8750689_8750690insA	NCBI36
NG_008797.2:g.5194_5195insA , LRG_329:g.5194_5195insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+13_114+14insA (CAV3) MANE Select	ENSP00000341940.2:n.114+13_114+14insA
ENST00000343849.2:c.114+13_114+14insA (CAV3)	ENSP00000341940.2:n.114+13_114+14insA
ENST00000397368.2:c.114+13_114+14insA (CAV3)	ENSP00000380525.2:n.114+13_114+14insA
ENST00000435138.5:c.64+8455_64+8456insT (SSUH2)	ENSP00000412333.1:n.64+8455_64+8456insT
ENST00000472766.1:n.155+13_155+14insA (CAV3)
ENST00000478513.1:n.335+8455_335+8456insT (SSUH2)
NM_001234.4:c.114+13_114+14insA (CAV3)	NP_001225.1:n.114+13_114+14insA
NM_033337.2:c.114+13_114+14insA , LRG_329t1:c.114+13_114+14insA (CAV3)	NP_203123.1:n.114+13_114+14insA
XR_940435.1:n.330+8455_330+8456insT (SSUH2)
XM_017006530.1:c.-283+8455_-283+8456insT (SSUH2)	XP_016862019.1:n.-283+8455_-283+8456insT
NM_001234.5:c.114+13_114+14insA (CAV3)	NP_001225.1:n.114+13_114+14insA
NM_033337.3:c.114+13_114+14insA (CAV3) MANE Select	NP_203123.1:n.114+13_114+14insA