Canonical Allele Identifier: CA1969343266
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47352664_47352675delinsCCAGGCACGAAG , CM000673.2:g.47352664_47352675delinsCCAGGCACGAAG GRCh38
NC_000011.9:g.47374215_47374226delinsCCAGGCACGAAG , CM000673.1:g.47374215_47374226delinsCCAGGCACGAAG GRCh37
NC_000011.8:g.47330791_47330802delinsCCAGGCACGAAG NCBI36
NG_007667.1:g.5028_5039delinsCTTCGTGCCTGG , LRG_386:g.5028_5039delinsCTTCGTGCCTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.-28_-17delinsCTTCGTGCCTGG MANE Select ENSP00000442795.1:n.-28_-17delinsCTTCGTGCCTGG
ENST00000256993.8:c.-28_-17delinsCTTCGTGCCTGG ENSP00000256993.5:n.-28_-17delinsCTTCGTGCCTGG
ENST00000399249.6:c.-28_-17delinsCTTCGTGCCTGG ENSP00000382193.2:n.-28_-17delinsCTTCGTGCCTGG
ENST00000544791.1:c.-28_-17delinsCTTCGTGCCTGG ENSP00000444259.1:n.-28_-17delinsCTTCGTGCCTGG
ENST00000545968.5:c.-28_-17delinsCTTCGTGCCTGG ENSP00000442795.1:n.-28_-17delinsCTTCGTGCCTGG
NM_000256.3:c.-28_-17delinsCTTCGTGCCTGG , LRG_386t1:c.-28_-17delinsCTTCGTGCCTGG MANE Select NP_000247.2:n.-28_-17delinsCTTCGTGCCTGG
XM_011520117.1:c.-28_-17delinsCTTCGTGCCTGG XP_011518419.1:n.-28_-17delinsCTTCGTGCCTGG
XM_011520118.1:c.-28_-17delinsCTTCGTGCCTGG XP_011518420.1:n.-28_-17delinsCTTCGTGCCTGG