Canonical Allele Identifier: CA2664271807

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745898-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745903del , CM000665.2:g.8745903del	GRCh38
NC_000003.11:g.8787589del , CM000665.1:g.8787589del	GRCh37
NC_000003.10:g.8762589del	NCBI36
NG_008797.2:g.17094del , LRG_329:g.17094del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*36del MANE Select	ENSP00000341940.2:n.*36del
ENST00000343849.2:c.*36del	ENSP00000341940.2:n.*36del
ENST00000397368.2:c.*6+30del	ENSP00000380525.2:n.*6+30del
ENST00000472766.1:n.155+11913del
NM_001234.4:c.*6+30del	NP_001225.1:n.*6+30del
NM_033337.2:c.*36del , LRG_329t1:c.*36del	NP_203123.1:n.*36del
NM_001234.5:c.*6+30del	NP_001225.1:n.*6+30del
NM_033337.3:c.*36del MANE Select	NP_203123.1:n.*36del