Canonical Allele Identifier: CA1969339428
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346219_47346222delinsTCTC , CM000673.2:g.47346219_47346222delinsTCTC GRCh38
NC_000011.9:g.47367770_47367773delinsTCTC , CM000673.1:g.47367770_47367773delinsTCTC GRCh37
NC_000011.8:g.47324346_47324349delinsTCTC NCBI36
NG_007667.1:g.11481_11484delinsGAGA , LRG_386:g.11481_11484delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1075_1078delinsGAGA MANE Select ENSP00000442795.1:p.Glu359=
ENST00000256993.8:c.1075_1078delinsGAGA ENSP00000256993.5:p.Glu359=
ENST00000399249.6:c.1075_1078delinsGAGA ENSP00000382193.2:p.Glu359=
ENST00000544791.1:c.1075_1078delinsGAGA ENSP00000444259.1:p.Glu359=
ENST00000545968.5:c.1075_1078delinsGAGA ENSP00000442795.1:p.Glu359=
NM_000256.3:c.1075_1078delinsGAGA , LRG_386t1:c.1075_1078delinsGAGA MANE Select NP_000247.2:p.Glu359=
XM_011520117.1:c.1057_1060delinsGAGA XP_011518419.1:p.Glu353=
XM_011520118.1:c.1075_1078delinsGAGA XP_011518420.1:p.Glu359=