Canonical Allele Identifier: CA1969342478

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351044_47351050delinsGCCAGGA , CM000673.2:g.47351044_47351050delinsGCCAGGA	GRCh38
NC_000011.9:g.47372595_47372601delinsGCCAGGA , CM000673.1:g.47372595_47372601delinsGCCAGGA	GRCh37
NC_000011.8:g.47329171_47329177delinsGCCAGGA	NCBI36
NG_007667.1:g.6653_6659delinsTCCTGGC , LRG_386:g.6653_6659delinsTCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+189_292+195delinsTCCTGGC MANE Select	ENSP00000442795.1:n.292+189_292+195delinsTCCTGGC
ENST00000256993.8:c.292+189_292+195delinsTCCTGGC	ENSP00000256993.5:n.292+189_292+195delinsTCCTGGC
ENST00000399249.6:c.292+189_292+195delinsTCCTGGC	ENSP00000382193.2:n.292+189_292+195delinsTCCTGGC
ENST00000544791.1:c.292+189_292+195delinsTCCTGGC	ENSP00000444259.1:n.292+189_292+195delinsTCCTGGC
ENST00000545968.5:c.292+189_292+195delinsTCCTGGC	ENSP00000442795.1:n.292+189_292+195delinsTCCTGGC
NM_000256.3:c.292+189_292+195delinsTCCTGGC , LRG_386t1:c.292+189_292+195delinsTCCTGGC MANE Select	NP_000247.2:n.292+189_292+195delinsTCCTGGC
XM_011520117.1:c.292+189_292+195delinsTCCTGGC	XP_011518419.1:n.292+189_292+195delinsTCCTGGC
XM_011520118.1:c.292+189_292+195delinsTCCTGGC	XP_011518420.1:n.292+189_292+195delinsTCCTGGC