Canonical Allele Identifier: CA2573052242

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1180807
• ClinVar RCV Id: RCV001814536
• dbSNP Id: rs2124988278

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745565_8745566dup , CM000665.2:g.8745565_8745566dup	GRCh38
NC_000003.11:g.8787251_8787252dup , CM000665.1:g.8787251_8787252dup	GRCh37
NC_000003.10:g.8762251_8762252dup	NCBI36
NG_008797.2:g.16756_16757dup , LRG_329:g.16756_16757dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.154_155dup MANE Select	ENSP00000341940.2:p.Ser53ThrfsTer9
ENST00000343849.2:c.154_155dup	ENSP00000341940.2:p.Ser53ThrfsTer9
ENST00000397368.2:c.154_155dup	ENSP00000380525.2:p.Ser53ThrfsTer9
ENST00000472766.1:n.155+11575_155+11576dup
NM_001234.4:c.154_155dup	NP_001225.1:p.Ser53ThrfsTer9
NM_033337.2:c.154_155dup , LRG_329t1:c.154_155dup	NP_203123.1:p.Ser53ThrfsTer9
NM_001234.5:c.154_155dup	NP_001225.1:p.Ser53ThrfsTer9
NM_033337.3:c.154_155dup MANE Select	NP_203123.1:p.Ser53ThrfsTer9