Canonical Allele Identifier: CA911560921

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1427818182
• gnomAD v3: 3-8741760-ACC-A
• gnomAD v4: 3-8741760-ACC-A
• MyVariant Identifiers: chr3:g.8783447_8783448del (hg19) ; chr3:g.8741761_8741762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741763_8741764del , CM000665.2:g.8741763_8741764del	GRCh38
NC_000003.11:g.8783449_8783450del , CM000665.1:g.8783449_8783450del	GRCh37
NC_000003.10:g.8758449_8758450del	NCBI36
NG_008797.2:g.12954_12955del , LRG_329:g.12954_12955del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3763_115-3762del (CAV3) MANE Select	ENSP00000341940.2:n.115-3763_115-3762del
ENST00000343849.2:c.115-3763_115-3762del (CAV3)	ENSP00000341940.2:n.115-3763_115-3762del
ENST00000397368.2:c.115-3763_115-3762del (CAV3)	ENSP00000380525.2:n.115-3763_115-3762del
ENST00000435138.5:c.64+697_64+698del (SSUH2)	ENSP00000412333.1:n.64+697_64+698del
ENST00000472766.1:n.155+7773_155+7774del (CAV3)
ENST00000478513.1:n.335+697_335+698del (SSUH2)
NM_001234.4:c.115-3763_115-3762del (CAV3)	NP_001225.1:n.115-3763_115-3762del
NM_033337.2:c.115-3763_115-3762del , LRG_329t1:c.115-3763_115-3762del (CAV3)	NP_203123.1:n.115-3763_115-3762del
XR_940435.1:n.330+697_330+698del (SSUH2)
XM_017006530.1:c.-283+697_-283+698del (SSUH2)	XP_016862019.1:n.-283+697_-283+698del
NM_001234.5:c.115-3763_115-3762del (CAV3)	NP_001225.1:n.115-3763_115-3762del
NM_033337.3:c.115-3763_115-3762del (CAV3) MANE Select	NP_203123.1:n.115-3763_115-3762del