Canonical Allele Identifier: CA1344402283

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738676_8738678delinsCAA , CM000665.2:g.8738676_8738678delinsCAA	GRCh38
NC_000003.11:g.8780362_8780364delinsCAA , CM000665.1:g.8780362_8780364delinsCAA	GRCh37
NC_000003.10:g.8755362_8755364delinsCAA	NCBI36
NG_008797.2:g.9867_9869delinsCAA , LRG_329:g.9867_9869delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4686_114+4688delinsCAA (CAV3) MANE Select	ENSP00000341940.2:n.114+4686_114+4688deli...
ENST00000343849.2:c.114+4686_114+4688delinsCAA (CAV3)	ENSP00000341940.2:n.114+4686_114+4688deli...
ENST00000397368.2:c.114+4686_114+4688delinsCAA (CAV3)	ENSP00000380525.2:n.114+4686_114+4688deli...
ENST00000435138.5:c.64+3781_64+3783delinsTTG (SSUH2)	ENSP00000412333.1:n.64+3781_64+3783delins...
ENST00000472766.1:n.155+4686_155+4688delinsCAA (CAV3)
ENST00000478513.1:n.335+3781_335+3783delinsTTG (SSUH2)
NM_001234.4:c.114+4686_114+4688delinsCAA (CAV3)	NP_001225.1:n.114+4686_114+4688delinsCAA
NM_033337.2:c.114+4686_114+4688delinsCAA , LRG_329t1:c.114+4686_114+4688delinsCAA (CAV3)	NP_203123.1:n.114+4686_114+4688delinsCAA
XR_940435.1:n.330+3781_330+3783delinsTTG (SSUH2)
XM_017006530.1:c.-283+3781_-283+3783delinsTTG (SSUH2)	XP_016862019.1:n.-283+3781_-283+3783delin...
NM_001234.5:c.114+4686_114+4688delinsCAA (CAV3)	NP_001225.1:n.114+4686_114+4688delinsCAA
NM_033337.3:c.114+4686_114+4688delinsCAA (CAV3) MANE Select	NP_203123.1:n.114+4686_114+4688delinsCAA