Canonical Allele Identifier: CA2580084275

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1770591
• ClinVar RCV Id: RCV002387939

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343024del , CM000673.2:g.47343024del	GRCh38
NC_000011.9:g.47364575del , CM000673.1:g.47364575del	GRCh37
NC_000011.8:g.47321151del	NCBI36
NG_007667.1:g.14681del , LRG_386:g.14681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1350del MANE Select	ENSP00000442795.1:p.Glu451SerfsTer15
ENST00000256993.8:c.1350del	ENSP00000256993.5:p.Glu451SerfsTer15
ENST00000399249.6:c.1350del	ENSP00000382193.2:p.Glu451SerfsTer15
ENST00000544791.1:c.1350del	ENSP00000444259.1:p.Glu451SerfsTer15
ENST00000545968.5:c.1350del	ENSP00000442795.1:p.Glu451SerfsTer15
NM_000256.3:c.1350del , LRG_386t1:c.1350del MANE Select	NP_000247.2:p.Glu451SerfsTer15
XM_011520117.1:c.1332del	XP_011518419.1:p.Glu445SerfsTer15
XM_011520118.1:c.1350del	XP_011518420.1:p.Glu451SerfsTer15