Canonical Allele Identifier: CA2695214005
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351314_47351315insCC , CM000673.2:g.47351314_47351315insCC GRCh38
NC_000011.9:g.47372865_47372866insCC , CM000673.1:g.47372865_47372866insCC GRCh37
NC_000011.8:g.47329441_47329442insCC NCBI36
NG_007667.1:g.6388_6389insGG , LRG_386:g.6388_6389insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.216_217insGG MANE Select ENSP00000442795.1:p.Pro73GlyfsTer24
ENST00000256993.8:c.216_217insGG ENSP00000256993.5:p.Pro73GlyfsTer24
ENST00000399249.6:c.216_217insGG ENSP00000382193.2:p.Pro73GlyfsTer24
ENST00000544791.1:c.216_217insGG ENSP00000444259.1:p.Pro73GlyfsTer24
ENST00000545968.5:c.216_217insGG ENSP00000442795.1:p.Pro73GlyfsTer24
NM_000256.3:c.216_217insGG , LRG_386t1:c.216_217insGG MANE Select NP_000247.2:p.Pro73GlyfsTer24
XM_011520117.1:c.216_217insGG XP_011518419.1:p.Pro73GlyfsTer24
XM_011520118.1:c.216_217insGG XP_011518420.1:p.Pro73GlyfsTer24