Canonical Allele Identifier: CA2838243505

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745503dup , CM000665.2:g.8745503dup	GRCh38
NC_000003.11:g.8787189dup , CM000665.1:g.8787189dup	GRCh37
NC_000003.10:g.8762189dup	NCBI36
NG_008797.2:g.16694dup , LRG_329:g.16694dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-23dup MANE Select	ENSP00000341940.2:n.115-23dup
ENST00000343849.2:c.115-23dup	ENSP00000341940.2:n.115-23dup
ENST00000397368.2:c.115-23dup	ENSP00000380525.2:n.115-23dup
ENST00000472766.1:n.155+11513dup
NM_001234.4:c.115-23dup	NP_001225.1:n.115-23dup
NM_033337.2:c.115-23dup , LRG_329t1:c.115-23dup	NP_203123.1:n.115-23dup
NM_001234.5:c.115-23dup	NP_001225.1:n.115-23dup
NM_033337.3:c.115-23dup MANE Select	NP_203123.1:n.115-23dup