Canonical Allele Identifier: CA540847580

Gene: CAV3

Linked Data

• gnomAD v2: 3-8787584-A-AG
• gnomAD v4: 3-8745898-A-AG
• MyVariant Identifiers: chr3:g.8787584_8787585insG (hg19) ; chr3:g.8745898_8745899insG (hg38)

Genomic Alleles

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

Transcript Alleles

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