Canonical Allele Identifier: CA1344405759

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745536_8745548delinsAAGACGTGATCGC , CM000665.2:g.8745536_8745548delinsAAGACGTGATCGC	GRCh38
NC_000003.11:g.8787222_8787234delinsAAGACGTGATCGC , CM000665.1:g.8787222_8787234delinsAAGACGTGATCGC	GRCh37
NC_000003.10:g.8762222_8762234delinsAAGACGTGATCGC	NCBI36
NG_008797.2:g.16727_16739delinsAAGACGTGATCGC , LRG_329:g.16727_16739delinsAAGACGTGATCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.125_137delinsAAGACGTGATCGC MANE Select	ENSP00000341940.2:p.Glu42=
ENST00000343849.2:c.125_137delinsAAGACGTGATCGC	ENSP00000341940.2:p.Glu42=
ENST00000397368.2:c.125_137delinsAAGACGTGATCGC	ENSP00000380525.2:p.Glu42=
ENST00000472766.1:n.155+11546_155+11558delinsAAGACGTGATCGC
NM_001234.4:c.125_137delinsAAGACGTGATCGC	NP_001225.1:p.Glu42=
NM_033337.2:c.125_137delinsAAGACGTGATCGC , LRG_329t1:c.125_137delinsAAGACGTGATCGC	NP_203123.1:p.Glu42=
NM_001234.5:c.125_137delinsAAGACGTGATCGC	NP_001225.1:p.Glu42=
NM_033337.3:c.125_137delinsAAGACGTGATCGC MANE Select	NP_203123.1:p.Glu42=