Canonical Allele Identifier: CA69865058

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1001523605
• gnomAD v2: 3-8780490-CAATGGATCACAGCACTGCTCCATGACT-C
• gnomAD v3: 3-8738804-CAATGGATCACAGCACTGCTCCATGACT-C
• gnomAD v4: 3-8738804-CAATGGATCACAGCACTGCTCCATGACT-C
• MyVariant Identifiers: chr3:g.8780491_8780517del (hg19) ; chr3:g.8738805_8738831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738829_8738855del , CM000665.2:g.8738829_8738855del	GRCh38
NC_000003.11:g.8780515_8780541del , CM000665.1:g.8780515_8780541del	GRCh37
NC_000003.10:g.8755515_8755541del	NCBI36
NG_008797.2:g.10020_10046del , LRG_329:g.10020_10046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4839_114+4865del (CAV3) MANE Select	ENSP00000341940.2:n.114+4839_114+4865del
ENST00000343849.2:c.114+4839_114+4865del (CAV3)	ENSP00000341940.2:n.114+4839_114+4865del
ENST00000397368.2:c.114+4839_114+4865del (CAV3)	ENSP00000380525.2:n.114+4839_114+4865del
ENST00000435138.5:c.64+3628_64+3654del (SSUH2)	ENSP00000412333.1:n.64+3628_64+3654del
ENST00000472766.1:n.155+4839_155+4865del (CAV3)
ENST00000478513.1:n.335+3628_335+3654del (SSUH2)
NM_001234.4:c.114+4839_114+4865del (CAV3)	NP_001225.1:n.114+4839_114+4865del
NM_033337.2:c.114+4839_114+4865del , LRG_329t1:c.114+4839_114+4865del (CAV3)	NP_203123.1:n.114+4839_114+4865del
XR_940435.1:n.330+3628_330+3654del (SSUH2)
XM_017006530.1:c.-283+3628_-283+3654del (SSUH2)	XP_016862019.1:n.-283+3628_-283+3654del
NM_001234.5:c.114+4839_114+4865del (CAV3)	NP_001225.1:n.114+4839_114+4865del
NM_033337.3:c.114+4839_114+4865del (CAV3) MANE Select	NP_203123.1:n.114+4839_114+4865del