Canonical Allele Identifier: CA911554248

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1185829914
• gnomAD v3: 3-8733819-TCAGCCC-T
• gnomAD v4: 3-8733819-TCAGCCC-T
• MyVariant Identifiers: chr3:g.8775506_8775511del (hg19) ; chr3:g.8733820_8733825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733825_8733830del , CM000665.2:g.8733825_8733830del	GRCh38
NC_000003.11:g.8775511_8775516del , CM000665.1:g.8775511_8775516del	GRCh37
NC_000003.10:g.8750511_8750516del	NCBI36
NG_008797.2:g.5016_5021del , LRG_329:g.5016_5021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.-52_-47del (CAV3) MANE Select	ENSP00000341940.2:n.-52_-47del
ENST00000343849.2:c.-52_-47del (CAV3)	ENSP00000341940.2:n.-52_-47del
ENST00000435138.5:c.64+8634_64+8639del (SSUH2)	ENSP00000412333.1:n.64+8634_64+8639del
ENST00000478513.1:n.335+8634_335+8639del (SSUH2)
NM_001234.4:c.-52_-47del (CAV3)	NP_001225.1:n.-52_-47del
NM_033337.2:c.-52_-47del , LRG_329t1:c.-52_-47del (CAV3)	NP_203123.1:n.-52_-47del
XR_940435.1:n.330+8634_330+8639del (SSUH2)
XM_017006530.1:c.-283+8634_-283+8639del (SSUH2)	XP_016862019.1:n.-283+8634_-283+8639del
NM_001234.5:c.-52_-47del (CAV3)	NP_001225.1:n.-52_-47del
NM_033337.3:c.-52_-47del (CAV3) MANE Select	NP_203123.1:n.-52_-47del