Canonical Allele Identifier: CA1969342479

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351044_47351051delinsGCCAGGAT , CM000673.2:g.47351044_47351051delinsGCCAGGAT	GRCh38
NC_000011.9:g.47372595_47372602delinsGCCAGGAT , CM000673.1:g.47372595_47372602delinsGCCAGGAT	GRCh37
NC_000011.8:g.47329171_47329178delinsGCCAGGAT	NCBI36
NG_007667.1:g.6652_6659delinsATCCTGGC , LRG_386:g.6652_6659delinsATCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+188_292+195delinsATCCTGGC MANE Select	ENSP00000442795.1:n.292+188_292+195delinsATCCTGGC
ENST00000256993.8:c.292+188_292+195delinsATCCTGGC	ENSP00000256993.5:n.292+188_292+195delinsATCCTGGC
ENST00000399249.6:c.292+188_292+195delinsATCCTGGC	ENSP00000382193.2:n.292+188_292+195delinsATCCTGGC
ENST00000544791.1:c.292+188_292+195delinsATCCTGGC	ENSP00000444259.1:n.292+188_292+195delinsATCCTGGC
ENST00000545968.5:c.292+188_292+195delinsATCCTGGC	ENSP00000442795.1:n.292+188_292+195delinsATCCTGGC
NM_000256.3:c.292+188_292+195delinsATCCTGGC , LRG_386t1:c.292+188_292+195delinsATCCTGGC MANE Select	NP_000247.2:n.292+188_292+195delinsATCCTGGC
XM_011520117.1:c.292+188_292+195delinsATCCTGGC	XP_011518419.1:n.292+188_292+195delinsATCCTGGC
XM_011520118.1:c.292+188_292+195delinsATCCTGGC	XP_011518420.1:n.292+188_292+195delinsATCCTGGC