Canonical Allele Identifier: CA2989034959

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745860_8745862dup , CM000665.2:g.8745860_8745862dup	GRCh38
NC_000003.11:g.8787546_8787548dup , CM000665.1:g.8787546_8787548dup	GRCh37
NC_000003.10:g.8762546_8762548dup	NCBI36
NG_008797.2:g.17051_17053dup , LRG_329:g.17051_17053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.449_451dup MANE Select	ENSP00000341940.2:p.Glu150_Val151insGlu
ENST00000343849.2:c.449_451dup	ENSP00000341940.2:p.Glu150_Val151insGlu
ENST00000397368.2:c.449_451dup	ENSP00000380525.2:p.Glu150_Val151insGlu
ENST00000472766.1:n.155+11870_155+11872dup
NM_001234.4:c.449_451dup	NP_001225.1:p.Glu150_Val151insGlu
NM_033337.2:c.449_451dup , LRG_329t1:c.449_451dup	NP_203123.1:p.Glu150_Val151insGlu
NM_001234.5:c.449_451dup	NP_001225.1:p.Glu150_Val151insGlu
NM_033337.3:c.449_451dup MANE Select	NP_203123.1:p.Glu150_Val151insGlu