Canonical Allele Identifier: CA009831
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343548del , CM000673.2:g.47343548del GRCh38
NC_000011.9:g.47365099del , CM000673.1:g.47365099del GRCh37
NC_000011.8:g.47321675del NCBI36
NG_007667.1:g.14156del , LRG_386:g.14156del

Transcript Alleles

HGVS Amino-acid Change
NM_000256.3:c.1168del , LRG_386t1:c.1168del MANE Select NP_000247.2:p.His390MetfsTer16
ENST00000545968.6:c.1168del MANE Select ENSP00000442795.1:p.His390MetfsTer16
ENST00000256993.8:c.1168del ENSP00000256993.5:p.His390MetfsTer16
ENST00000399249.6:c.1168del ENSP00000382193.2:p.His390MetfsTer16
ENST00000544791.1:c.1168del ENSP00000444259.1:p.His390MetfsTer16
ENST00000545968.5:c.1168del ENSP00000442795.1:p.His390MetfsTer16
XM_011520117.1:c.1150del XP_011518419.1:p.His384MetfsTer16
XM_011520118.1:c.1168del XP_011518420.1:p.His390MetfsTer16