Canonical Allele Identifier: CA1969337094
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343466_47343467delinsGC , CM000673.2:g.47343466_47343467delinsGC GRCh38
NC_000011.9:g.47365017_47365018delinsGC , CM000673.1:g.47365017_47365018delinsGC GRCh37
NC_000011.8:g.47321593_47321594delinsGC NCBI36
NG_007667.1:g.14236_14237delinsGC , LRG_386:g.14236_14237delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1223+25_1223+26delinsGC MANE Select ENSP00000442795.1:n.1223+25_1223+26delinsGC
ENST00000256993.8:c.1223+25_1223+26delinsGC ENSP00000256993.5:n.1223+25_1223+26delinsGC
ENST00000399249.6:c.1223+25_1223+26delinsGC ENSP00000382193.2:n.1223+25_1223+26delinsGC
ENST00000544791.1:c.1223+25_1223+26delinsGC ENSP00000444259.1:n.1223+25_1223+26delinsGC
ENST00000545968.5:c.1223+25_1223+26delinsGC ENSP00000442795.1:n.1223+25_1223+26delinsGC
NM_000256.3:c.1223+25_1223+26delinsGC , LRG_386t1:c.1223+25_1223+26delinsGC MANE Select NP_000247.2:n.1223+25_1223+26delinsGC
XM_011520117.1:c.1205+25_1205+26delinsGC XP_011518419.1:n.1205+25_1205+26delinsGC
XM_011520118.1:c.1223+25_1223+26delinsGC XP_011518420.1:n.1223+25_1223+26delinsGC