Canonical Allele Identifier: CA2791323013
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343656_47343672del , CM000673.2:g.47343656_47343672del GRCh38
NC_000011.9:g.47365207_47365223del , CM000673.1:g.47365207_47365223del GRCh37
NC_000011.8:g.47321783_47321799del NCBI36
NG_007667.1:g.14031_14047del , LRG_386:g.14031_14047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1091-48_1091-32del MANE Select ENSP00000442795.1:n.1091-48_1091-32del
ENST00000256993.8:c.1091-48_1091-32del ENSP00000256993.5:n.1091-48_1091-32del
ENST00000399249.6:c.1091-48_1091-32del ENSP00000382193.2:n.1091-48_1091-32del
ENST00000544791.1:c.1091-48_1091-32del ENSP00000444259.1:n.1091-48_1091-32del
ENST00000545968.5:c.1091-48_1091-32del ENSP00000442795.1:n.1091-48_1091-32del
NM_000256.3:c.1091-48_1091-32del , LRG_386t1:c.1091-48_1091-32del MANE Select NP_000247.2:n.1091-48_1091-32del
XM_011520117.1:c.1073-48_1073-32del XP_011518419.1:n.1073-48_1073-32del
XM_011520118.1:c.1091-48_1091-32del XP_011518420.1:n.1091-48_1091-32del