Canonical Allele Identifier: CA1969332040
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338430_47338431delinsTG , CM000673.2:g.47338430_47338431delinsTG GRCh38
NC_000011.9:g.47359981_47359982delinsTG , CM000673.1:g.47359981_47359982delinsTG GRCh37
NC_000011.8:g.47316557_47316558delinsTG NCBI36
NG_007667.1:g.19272_19273delinsCA , LRG_386:g.19272_19273delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2308+89_2308+90delinsCA MANE Select ENSP00000442795.1:n.2308+89_2308+90delins...
ENST00000256993.8:c.2308+89_2308+90delinsCA ENSP00000256993.5:n.2308+89_2308+90delins...
ENST00000399249.6:c.2308+89_2308+90delinsCA ENSP00000382193.2:n.2308+89_2308+90delins...
ENST00000544791.1:c.2308+89_2308+90delinsCA ENSP00000444259.1:n.2308+89_2308+90delins...
ENST00000545968.5:c.2308+89_2308+90delinsCA ENSP00000442795.1:n.2308+89_2308+90delins...
NM_000256.3:c.2308+89_2308+90delinsCA , LRG_386t1:c.2308+89_2308+90delinsCA MANE Select NP_000247.2:n.2308+89_2308+90delinsCA
XM_011520117.1:c.2290+89_2290+90delinsCA XP_011518419.1:n.2290+89_2290+90delinsCA
XM_011520118.1:c.2227+89_2227+90delinsCA XP_011518420.1:n.2227+89_2227+90delinsCA