Canonical Allele Identifier: CA2573130287
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333718del , CM000673.2:g.47333718del GRCh38
NC_000011.9:g.47355269del , CM000673.1:g.47355269del GRCh37
NC_000011.8:g.47311845del NCBI36
NG_007667.1:g.23985del , LRG_386:g.23985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3029del MANE Select ENSP00000442795.1:p.Glu1010GlyfsTer10
ENST00000256993.8:c.3029del ENSP00000256993.5:p.Glu1010GlyfsTer10
ENST00000399249.6:c.3029del ENSP00000382193.2:p.Glu1010GlyfsTer10
ENST00000545968.5:c.3029del ENSP00000442795.1:p.Glu1010GlyfsTer10
NM_000256.3:c.3029del , LRG_386t1:c.3029del MANE Select NP_000247.2:p.Glu1010GlyfsTer10
XM_011520117.1:c.3011del XP_011518419.1:p.Glu1004GlyfsTer10
XM_011520118.1:c.2948del XP_011518420.1:p.Glu983GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'