Canonical Allele Identifier: CA1344397425

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734255_8734260delinsCAAAGA , CM000665.2:g.8734255_8734260delinsCAAAGA	GRCh38
NC_000003.11:g.8775941_8775946delinsCAAAGA , CM000665.1:g.8775941_8775946delinsCAAAGA	GRCh37
NC_000003.10:g.8750941_8750946delinsCAAAGA	NCBI36
NG_008797.2:g.5446_5451delinsCAAAGA , LRG_329:g.5446_5451delinsCAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+265_114+270delinsCAAAGA (CAV3) MANE Select	ENSP00000341940.2:n.114+265_114+270delinsCAAAGA
ENST00000343849.2:c.114+265_114+270delinsCAAAGA (CAV3)	ENSP00000341940.2:n.114+265_114+270delinsCAAAGA
ENST00000397368.2:c.114+265_114+270delinsCAAAGA (CAV3)	ENSP00000380525.2:n.114+265_114+270delinsCAAAGA
ENST00000435138.5:c.64+8199_64+8204delinsTCTTTG (SSUH2)	ENSP00000412333.1:n.64+8199_64+8204delinsTCTTTG
ENST00000472766.1:n.155+265_155+270delinsCAAAGA (CAV3)
ENST00000478513.1:n.335+8199_335+8204delinsTCTTTG (SSUH2)
NM_001234.4:c.114+265_114+270delinsCAAAGA (CAV3)	NP_001225.1:n.114+265_114+270delinsCAAAGA
NM_033337.2:c.114+265_114+270delinsCAAAGA , LRG_329t1:c.114+265_114+270delinsCAAAGA (CAV3)	NP_203123.1:n.114+265_114+270delinsCAAAGA
XR_940435.1:n.330+8199_330+8204delinsTCTTTG (SSUH2)
XM_017006530.1:c.-283+8199_-283+8204delinsTCTTTG (SSUH2)	XP_016862019.1:n.-283+8199_-283+8204delinsTCTTTG
NM_001234.5:c.114+265_114+270delinsCAAAGA (CAV3)	NP_001225.1:n.114+265_114+270delinsCAAAGA
NM_033337.3:c.114+265_114+270delinsCAAAGA (CAV3) MANE Select	NP_203123.1:n.114+265_114+270delinsCAAAGA