Canonical Allele Identifier: CA1969331847
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338192_47338199delinsGTTTCCTC , CM000673.2:g.47338192_47338199delinsGTTTCCTC GRCh38
NC_000011.9:g.47359743_47359750delinsGTTTCCTC , CM000673.1:g.47359743_47359750delinsGTTTCCTC GRCh37
NC_000011.8:g.47316319_47316326delinsGTTTCCTC NCBI36
NG_007667.1:g.19504_19511delinsGAGGAAAC , LRG_386:g.19504_19511delinsGAGGAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2308+321_2308+328delinsGAGGAAAC MANE Select ENSP00000442795.1:n.2308+321_2308+328delinsGAGGAAAC
ENST00000256993.8:c.2308+321_2308+328delinsGAGGAAAC ENSP00000256993.5:n.2308+321_2308+328delinsGAGGAAAC
ENST00000399249.6:c.2308+321_2308+328delinsGAGGAAAC ENSP00000382193.2:n.2308+321_2308+328delinsGAGGAAAC
ENST00000544791.1:c.2308+321_2308+328delinsGAGGAAAC ENSP00000444259.1:n.2308+321_2308+328delinsGAGGAAAC
ENST00000545968.5:c.2308+321_2308+328delinsGAGGAAAC ENSP00000442795.1:n.2308+321_2308+328delinsGAGGAAAC
NM_000256.3:c.2308+321_2308+328delinsGAGGAAAC , LRG_386t1:c.2308+321_2308+328delinsGAGGAAAC MANE Select NP_000247.2:n.2308+321_2308+328delinsGAGGAAAC
XM_011520117.1:c.2290+321_2290+328delinsGAGGAAAC XP_011518419.1:n.2290+321_2290+328delinsGAGGAAAC
XM_011520118.1:c.2227+321_2227+328delinsGAGGAAAC XP_011518420.1:n.2227+321_2227+328delinsGAGGAAAC