Canonical Allele Identifier: CA2236386

Gene: CAV3

Linked Data

• dbSNP Id: rs748670765
• ExAC: 3:8787602 CTGGT / C
• gnomAD v2: 3-8787602-CTGGT-C
• gnomAD v4: 3-8745916-CTGGT-C
• MyVariant Identifiers: chr3:g.8787603_8787606del (hg19) ; chr3:g.8745917_8745920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745917_8745920del , CM000665.2:g.8745917_8745920del	GRCh38
NC_000003.11:g.8787603_8787606del , CM000665.1:g.8787603_8787606del	GRCh37
NC_000003.10:g.8762603_8762606del	NCBI36
NG_008797.2:g.17108_17111del , LRG_329:g.17108_17111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*50_*53del MANE Select	ENSP00000341940.2:n.*50_*53del
ENST00000343849.2:c.*50_*53del	ENSP00000341940.2:n.*50_*53del
ENST00000397368.2:c.*6+44_*6+47del	ENSP00000380525.2:n.*6+44_*6+47del
ENST00000472766.1:n.155+11927_155+11930del
NM_001234.4:c.*6+44_*6+47del	NP_001225.1:n.*6+44_*6+47del
NM_033337.2:c.*50_*53del , LRG_329t1:c.*50_*53del	NP_203123.1:n.*50_*53del
NM_001234.5:c.*6+44_*6+47del	NP_001225.1:n.*6+44_*6+47del
NM_033337.3:c.*50_*53del MANE Select	NP_203123.1:n.*50_*53del