Canonical Allele Identifier: CA1969335231
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341938_47341960delinsTCTGTCTCCATCTCAGTCTCCAC , CM000673.2:g.47341938_47341960delinsTCTGTCTCCATCTCAGTCTCCAC GRCh38
NC_000011.9:g.47363489_47363511delinsTCTGTCTCCATCTCAGTCTCCAC , CM000673.1:g.47363489_47363511delinsTCTGTCTCCATCTCAGTCTCCAC GRCh37
NC_000011.8:g.47320065_47320087delinsTCTGTCTCCATCTCAGTCTCCAC NCBI36
NG_007667.1:g.15743_15765delinsGTGGAGACTGAGATGGAGACAGA , LRG_386:g.15743_15765delinsGTGGAGACTGAGATGGAGACAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA MANE Select ENSP00000442795.1:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGAC...
ENST00000256993.8:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA ENSP00000256993.5:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGAC...
ENST00000399249.6:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA ENSP00000382193.2:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGAC...
ENST00000544791.1:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA ENSP00000444259.1:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGAC...
ENST00000545968.5:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA ENSP00000442795.1:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGAC...
NM_000256.3:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA , LRG_386t1:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA MANE Select NP_000247.2:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA
XM_011520117.1:c.1772+31_1772+53delinsGTGGAGACTGAGATGGAGACAGA XP_011518419.1:n.1772+31_1772+53delinsGTGGAGACTGAGATGGAGACAGA...
XM_011520118.1:c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA XP_011518420.1:n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA...