Canonical Allele Identifier: CA2739291470

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351431_47351432insCTGCCCGCTCC , CM000673.2:g.47351431_47351432insCTGCCCGCTCC	GRCh38
NC_000011.9:g.47372982_47372983insCTGCCCGCTCC , CM000673.1:g.47372982_47372983insCTGCCCGCTCC	GRCh37
NC_000011.8:g.47329558_47329559insCTGCCCGCTCC	NCBI36
NG_007667.1:g.6272_6273insGAGCGGGCAGG , LRG_386:g.6272_6273insGAGCGGGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.100_101insGAGCGGGCAGG MANE Select	ENSP00000442795.1:p.Glu34GlyfsTer9
ENST00000256993.8:c.100_101insGAGCGGGCAGG	ENSP00000256993.5:p.Glu34GlyfsTer9
ENST00000399249.6:c.100_101insGAGCGGGCAGG	ENSP00000382193.2:p.Glu34GlyfsTer9
ENST00000544791.1:c.100_101insGAGCGGGCAGG	ENSP00000444259.1:p.Glu34GlyfsTer9
ENST00000545968.5:c.100_101insGAGCGGGCAGG	ENSP00000442795.1:p.Glu34GlyfsTer9
NM_000256.3:c.100_101insGAGCGGGCAGG , LRG_386t1:c.100_101insGAGCGGGCAGG MANE Select	NP_000247.2:p.Glu34GlyfsTer9
XM_011520117.1:c.100_101insGAGCGGGCAGG	XP_011518419.1:p.Glu34GlyfsTer9
XM_011520118.1:c.100_101insGAGCGGGCAGG	XP_011518420.1:p.Glu34GlyfsTer9