Canonical Allele Identifier: CA1139661932

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 929059
• ClinVar RCV Id: RCV001193931 ; RCV001863064
• dbSNP Id: rs2095890222

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342809_47342810delinsAA , CM000673.2:g.47342809_47342810delinsAA	GRCh38
NC_000011.9:g.47364360_47364361delinsAA , CM000673.1:g.47364360_47364361delinsAA	GRCh37
NC_000011.8:g.47320936_47320937delinsAA	NCBI36
NG_007667.1:g.14893_14894delinsTT , LRG_386:g.14893_14894delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1457+20_1457+21delinsTT MANE Select	ENSP00000442795.1:n.1457+20_1457+21delinsTT
ENST00000256993.8:c.1457+20_1457+21delinsTT	ENSP00000256993.5:n.1457+20_1457+21delinsTT
ENST00000399249.6:c.1457+20_1457+21delinsTT	ENSP00000382193.2:n.1457+20_1457+21delinsTT
ENST00000544791.1:c.1457+20_1457+21delinsTT	ENSP00000444259.1:n.1457+20_1457+21delinsTT
ENST00000545968.5:c.1457+20_1457+21delinsTT	ENSP00000442795.1:n.1457+20_1457+21delinsTT
NM_000256.3:c.1457+20_1457+21delinsTT , LRG_386t1:c.1457+20_1457+21delinsTT MANE Select	NP_000247.2:n.1457+20_1457+21delinsTT
XM_011520117.1:c.1439+20_1439+21delinsTT	XP_011518419.1:n.1439+20_1439+21delinsTT
XM_011520118.1:c.1457+20_1457+21delinsTT	XP_011518420.1:n.1457+20_1457+21delinsTT