Canonical Allele Identifier: CA911554373

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1270876090
• gnomAD v3: 3-8733875-CGAT-C
• gnomAD v4: 3-8733875-CGAT-C
• MyVariant Identifiers: chr3:g.8775562_8775564del (hg19) ; chr3:g.8733876_8733878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733880_8733882del , CM000665.2:g.8733880_8733882del	GRCh38
NC_000003.11:g.8775566_8775568del , CM000665.1:g.8775566_8775568del	GRCh37
NC_000003.10:g.8750566_8750568del	NCBI36
NG_008797.2:g.5071_5073del , LRG_329:g.5071_5073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.4_6del (CAV3) MANE Select	ENSP00000341940.2:p.Met2del
ENST00000343849.2:c.4_6del (CAV3)	ENSP00000341940.2:p.Met2del
ENST00000397368.2:c.4_6del (CAV3)	ENSP00000380525.2:p.Met2del
ENST00000435138.5:c.64+8581_64+8583del (SSUH2)	ENSP00000412333.1:n.64+8581_64+8583del
ENST00000472766.1:n.45_47del (CAV3)
ENST00000478513.1:n.335+8581_335+8583del (SSUH2)
NM_001234.4:c.4_6del (CAV3)	NP_001225.1:p.Met2del
NM_033337.2:c.4_6del , LRG_329t1:c.4_6del (CAV3)	NP_203123.1:p.Met2del
XR_940435.1:n.330+8581_330+8583del (SSUH2)
XM_017006530.1:c.-283+8581_-283+8583del (SSUH2)	XP_016862019.1:n.-283+8581_-283+8583del
NM_001234.5:c.4_6del (CAV3)	NP_001225.1:p.Met2del
NM_033337.3:c.4_6del (CAV3) MANE Select	NP_203123.1:p.Met2del