Canonical Allele Identifier: CA2613399573
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341239-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341241del , CM000673.2:g.47341241del GRCh38
NC_000011.9:g.47362792del , CM000673.1:g.47362792del GRCh37
NC_000011.8:g.47319368del NCBI36
NG_007667.1:g.16463del , LRG_386:g.16463del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1795del MANE Select ENSP00000442795.1:p.His599ThrfsTer3
ENST00000256993.8:c.1795del ENSP00000256993.5:p.His599ThrfsTer3
ENST00000399249.6:c.1795del ENSP00000382193.2:p.His599ThrfsTer3
ENST00000544791.1:c.1795del ENSP00000444259.1:p.His599ThrfsTer3
ENST00000545968.5:c.1795del ENSP00000442795.1:p.His599ThrfsTer3
NM_000256.3:c.1795del , LRG_386t1:c.1795del MANE Select NP_000247.2:p.His599ThrfsTer3
XM_011520117.1:c.1777del XP_011518419.1:p.His593ThrfsTer3
XM_011520118.1:c.1795del XP_011518420.1:p.His599ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'