Canonical Allele Identifier: CA2613400957
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337445-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337446del , CM000673.2:g.47337446del GRCh38
NC_000011.9:g.47358997del , CM000673.1:g.47358997del GRCh37
NC_000011.8:g.47315573del NCBI36
NG_007667.1:g.20257del , LRG_386:g.20257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2547del MANE Select ENSP00000442795.1:p.Asn850ThrfsTer29
ENST00000256993.8:c.2547del ENSP00000256993.5:p.Asn850ThrfsTer29
ENST00000399249.6:c.2547del ENSP00000382193.2:p.Asn850ThrfsTer29
ENST00000544791.1:c.*52del ENSP00000444259.1:n.*52del
ENST00000545968.5:c.2547del ENSP00000442795.1:p.Asn850ThrfsTer29
NM_000256.3:c.2547del , LRG_386t1:c.2547del MANE Select NP_000247.2:p.Asn850ThrfsTer29
XM_011520117.1:c.2529del XP_011518419.1:p.Asn844ThrfsTer29
XM_011520118.1:c.2466del XP_011518420.1:p.Asn823ThrfsTer29
Search 100 bp 5'
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