Canonical Allele Identifier: CA2514302987
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341835_47341836del , CM000673.2:g.47341835_47341836del GRCh38
NC_000011.9:g.47363386_47363387del , CM000673.1:g.47363386_47363387del GRCh37
NC_000011.8:g.47319962_47319963del NCBI36
NG_007667.1:g.15868_15869del , LRG_386:g.15868_15869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+156_1790+157del MANE Select ENSP00000442795.1:n.1790+156_1790+157del
ENST00000256993.8:c.1790+156_1790+157del ENSP00000256993.5:n.1790+156_1790+157del
ENST00000399249.6:c.1790+156_1790+157del ENSP00000382193.2:n.1790+156_1790+157del
ENST00000544791.1:c.1790+156_1790+157del ENSP00000444259.1:n.1790+156_1790+157del
ENST00000545968.5:c.1790+156_1790+157del ENSP00000442795.1:n.1790+156_1790+157del
NM_000256.3:c.1790+156_1790+157del , LRG_386t1:c.1790+156_1790+157del MANE Select NP_000247.2:n.1790+156_1790+157del
XM_011520117.1:c.1772+156_1772+157del XP_011518419.1:n.1772+156_1772+157del
XM_011520118.1:c.1790+156_1790+157del XP_011518420.1:n.1790+156_1790+157del