Canonical Allele Identifier: CA2580084276

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2137086
• ClinVar RCV Id: RCV003058310

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351315del , CM000673.2:g.47351315del	GRCh38
NC_000011.9:g.47372866del , CM000673.1:g.47372866del	GRCh37
NC_000011.8:g.47329442del	NCBI36
NG_007667.1:g.6390del , LRG_386:g.6390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.218del MANE Select	ENSP00000442795.1:p.Pro73LeufsTer23
ENST00000256993.8:c.218del	ENSP00000256993.5:p.Pro73LeufsTer23
ENST00000399249.6:c.218del	ENSP00000382193.2:p.Pro73LeufsTer23
ENST00000544791.1:c.218del	ENSP00000444259.1:p.Pro73LeufsTer23
ENST00000545968.5:c.218del	ENSP00000442795.1:p.Pro73LeufsTer23
NM_000256.3:c.218del , LRG_386t1:c.218del MANE Select	NP_000247.2:p.Pro73LeufsTer23
XM_011520117.1:c.218del	XP_011518419.1:p.Pro73LeufsTer23
XM_011520118.1:c.218del	XP_011518420.1:p.Pro73LeufsTer23