Canonical Allele Identifier: CA911558541

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1180896309
• gnomAD v3: 3-8738762-TGTC-T
• gnomAD v4: 3-8738762-TGTC-T
• MyVariant Identifiers: chr3:g.8780449_8780451del (hg19) ; chr3:g.8738763_8738765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738763_8738765del , CM000665.2:g.8738763_8738765del	GRCh38
NC_000003.11:g.8780449_8780451del , CM000665.1:g.8780449_8780451del	GRCh37
NC_000003.10:g.8755449_8755451del	NCBI36
NG_008797.2:g.9954_9956del , LRG_329:g.9954_9956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.114+4773_114+4775del (CAV3) MANE Select	ENSP00000341940.2:n.114+4773_114+4775del
ENST00000343849.2:c.114+4773_114+4775del (CAV3)	ENSP00000341940.2:n.114+4773_114+4775del
ENST00000397368.2:c.114+4773_114+4775del (CAV3)	ENSP00000380525.2:n.114+4773_114+4775del
ENST00000435138.5:c.64+3694_64+3696del (SSUH2)	ENSP00000412333.1:n.64+3694_64+3696del
ENST00000472766.1:n.155+4773_155+4775del (CAV3)
ENST00000478513.1:n.335+3694_335+3696del (SSUH2)
NM_001234.4:c.114+4773_114+4775del (CAV3)	NP_001225.1:n.114+4773_114+4775del
NM_033337.2:c.114+4773_114+4775del , LRG_329t1:c.114+4773_114+4775del (CAV3)	NP_203123.1:n.114+4773_114+4775del
XR_940435.1:n.330+3694_330+3696del (SSUH2)
XM_017006530.1:c.-283+3694_-283+3696del (SSUH2)	XP_016862019.1:n.-283+3694_-283+3696del
NM_001234.5:c.114+4773_114+4775del (CAV3)	NP_001225.1:n.114+4773_114+4775del
NM_033337.3:c.114+4773_114+4775del (CAV3) MANE Select	NP_203123.1:n.114+4773_114+4775del