Canonical Allele Identifier: CA1969339447
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346224_47346228delinsTCGCG , CM000673.2:g.47346224_47346228delinsTCGCG GRCh38
NC_000011.9:g.47367775_47367779delinsTCGCG , CM000673.1:g.47367775_47367779delinsTCGCG GRCh37
NC_000011.8:g.47324351_47324355delinsTCGCG NCBI36
NG_007667.1:g.11475_11479delinsCGCGA , LRG_386:g.11475_11479delinsCGCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1069_1073delinsCGCGA MANE Select ENSP00000442795.1:p.Arg357=
ENST00000256993.8:c.1069_1073delinsCGCGA ENSP00000256993.5:p.Arg357=
ENST00000399249.6:c.1069_1073delinsCGCGA ENSP00000382193.2:p.Arg357=
ENST00000544791.1:c.1069_1073delinsCGCGA ENSP00000444259.1:p.Arg357=
ENST00000545968.5:c.1069_1073delinsCGCGA ENSP00000442795.1:p.Arg357=
NM_000256.3:c.1069_1073delinsCGCGA , LRG_386t1:c.1069_1073delinsCGCGA MANE Select NP_000247.2:p.Arg357=
XM_011520117.1:c.1051_1055delinsCGCGA XP_011518419.1:p.Arg351=
XM_011520118.1:c.1069_1073delinsCGCGA XP_011518420.1:p.Arg357=