Canonical Allele Identifier: CA1139661930

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 926064
• ClinVar RCV Id: RCV001188412
• dbSNP Id: rs2095889992

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342683_47342684del , CM000673.2:g.47342683_47342684del	GRCh38
NC_000011.9:g.47364234_47364235del , CM000673.1:g.47364234_47364235del	GRCh37
NC_000011.8:g.47320810_47320811del	NCBI36
NG_007667.1:g.15019_15020del , LRG_386:g.15019_15020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1518_1519del MANE Select	ENSP00000442795.1:p.Asp506GlufsTer24
ENST00000256993.8:c.1518_1519del	ENSP00000256993.5:p.Asp506GlufsTer24
ENST00000399249.6:c.1518_1519del	ENSP00000382193.2:p.Asp506GlufsTer24
ENST00000544791.1:c.1518_1519del	ENSP00000444259.1:p.Asp506GlufsTer24
ENST00000545968.5:c.1518_1519del	ENSP00000442795.1:p.Asp506GlufsTer24
NM_000256.3:c.1518_1519del , LRG_386t1:c.1518_1519del MANE Select	NP_000247.2:p.Asp506GlufsTer24
XM_011520117.1:c.1500_1501del	XP_011518419.1:p.Asp500GlufsTer24
XM_011520118.1:c.1518_1519del	XP_011518420.1:p.Asp506GlufsTer24