Canonical Allele Identifier: CA3051856365

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738763_8738767del , CM000665.2:g.8738763_8738767del	GRCh38
NC_000003.11:g.8780449_8780453del , CM000665.1:g.8780449_8780453del	GRCh37
NC_000003.10:g.8755449_8755453del	NCBI36
NG_008797.2:g.9954_9958del , LRG_329:g.9954_9958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+4773_114+4777del (CAV3) MANE Select	ENSP00000341940.2:n.114+4773_114+4777del
ENST00000343849.2:c.114+4773_114+4777del (CAV3)	ENSP00000341940.2:n.114+4773_114+4777del
ENST00000397368.2:c.114+4773_114+4777del (CAV3)	ENSP00000380525.2:n.114+4773_114+4777del
ENST00000435138.5:c.64+3693_64+3697del (SSUH2)	ENSP00000412333.1:n.64+3693_64+3697del
ENST00000472766.1:n.155+4773_155+4777del (CAV3)
ENST00000478513.1:n.335+3693_335+3697del (SSUH2)
NM_001234.4:c.114+4773_114+4777del (CAV3)	NP_001225.1:n.114+4773_114+4777del
NM_033337.2:c.114+4773_114+4777del , LRG_329t1:c.114+4773_114+4777del (CAV3)	NP_203123.1:n.114+4773_114+4777del
XR_940435.1:n.330+3693_330+3697del (SSUH2)
XM_017006530.1:c.-283+3693_-283+3697del (SSUH2)	XP_016862019.1:n.-283+3693_-283+3697del
NM_001234.5:c.114+4773_114+4777del (CAV3)	NP_001225.1:n.114+4773_114+4777del
NM_033337.3:c.114+4773_114+4777del (CAV3) MANE Select	NP_203123.1:n.114+4773_114+4777del