Canonical Allele Identifier: CA1969335178
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341836_47341846delinsCTCTCTGTGGG , CM000673.2:g.47341836_47341846delinsCTCTCTGTGGG GRCh38
NC_000011.9:g.47363387_47363397delinsCTCTCTGTGGG , CM000673.1:g.47363387_47363397delinsCTCTCTGTGGG GRCh37
NC_000011.8:g.47319963_47319973delinsCTCTCTGTGGG NCBI36
NG_007667.1:g.15857_15867delinsCCCACAGAGAG , LRG_386:g.15857_15867delinsCCCACAGAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+145_1790+155delinsCCCACAGAGAG MANE Select ENSP00000442795.1:n.1790+145_1790+155delinsCCCACAGAGAG
ENST00000256993.8:c.1790+145_1790+155delinsCCCACAGAGAG ENSP00000256993.5:n.1790+145_1790+155delinsCCCACAGAGAG
ENST00000399249.6:c.1790+145_1790+155delinsCCCACAGAGAG ENSP00000382193.2:n.1790+145_1790+155delinsCCCACAGAGAG
ENST00000544791.1:c.1790+145_1790+155delinsCCCACAGAGAG ENSP00000444259.1:n.1790+145_1790+155delinsCCCACAGAGAG
ENST00000545968.5:c.1790+145_1790+155delinsCCCACAGAGAG ENSP00000442795.1:n.1790+145_1790+155delinsCCCACAGAGAG
NM_000256.3:c.1790+145_1790+155delinsCCCACAGAGAG , LRG_386t1:c.1790+145_1790+155delinsCCCACAGAGAG MANE Select NP_000247.2:n.1790+145_1790+155delinsCCCACAGAGAG
XM_011520117.1:c.1772+145_1772+155delinsCCCACAGAGAG XP_011518419.1:n.1772+145_1772+155delinsCCCACAGAGAG
XM_011520118.1:c.1790+145_1790+155delinsCCCACAGAGAG XP_011518420.1:n.1790+145_1790+155delinsCCCACAGAGAG