Canonical Allele Identifier: CA1969335212
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341905_47341911delinsATCTCTC , CM000673.2:g.47341905_47341911delinsATCTCTC GRCh38
NC_000011.9:g.47363456_47363462delinsATCTCTC , CM000673.1:g.47363456_47363462delinsATCTCTC GRCh37
NC_000011.8:g.47320032_47320038delinsATCTCTC NCBI36
NG_007667.1:g.15792_15798delinsGAGAGAT , LRG_386:g.15792_15798delinsGAGAGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1790+80_1790+86delinsGAGAGAT MANE Select ENSP00000442795.1:n.1790+80_1790+86delinsGAGAGAT
ENST00000256993.8:c.1790+80_1790+86delinsGAGAGAT ENSP00000256993.5:n.1790+80_1790+86delinsGAGAGAT
ENST00000399249.6:c.1790+80_1790+86delinsGAGAGAT ENSP00000382193.2:n.1790+80_1790+86delinsGAGAGAT
ENST00000544791.1:c.1790+80_1790+86delinsGAGAGAT ENSP00000444259.1:n.1790+80_1790+86delinsGAGAGAT
ENST00000545968.5:c.1790+80_1790+86delinsGAGAGAT ENSP00000442795.1:n.1790+80_1790+86delinsGAGAGAT
NM_000256.3:c.1790+80_1790+86delinsGAGAGAT , LRG_386t1:c.1790+80_1790+86delinsGAGAGAT MANE Select NP_000247.2:n.1790+80_1790+86delinsGAGAGAT
XM_011520117.1:c.1772+80_1772+86delinsGAGAGAT XP_011518419.1:n.1772+80_1772+86delinsGAGAGAT
XM_011520118.1:c.1790+80_1790+86delinsGAGAGAT XP_011518420.1:n.1790+80_1790+86delinsGAGAGAT