Canonical Allele Identifier: CA2791331120
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333705del , CM000673.2:g.47333705del GRCh38
NC_000011.9:g.47355256del , CM000673.1:g.47355256del GRCh37
NC_000011.8:g.47311832del NCBI36
NG_007667.1:g.23999del , LRG_386:g.23999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3043del MANE Select ENSP00000442795.1:p.Ala1015GlnfsTer5
ENST00000256993.8:c.3043del ENSP00000256993.5:p.Ala1015GlnfsTer5
ENST00000399249.6:c.3043del ENSP00000382193.2:p.Ala1015GlnfsTer5
ENST00000545968.5:c.3043del ENSP00000442795.1:p.Ala1015GlnfsTer5
NM_000256.3:c.3043del , LRG_386t1:c.3043del MANE Select NP_000247.2:p.Ala1015GlnfsTer5
XM_011520117.1:c.3025del XP_011518419.1:p.Ala1009GlnfsTer5
XM_011520118.1:c.2962del XP_011518420.1:p.Ala988GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'