Canonical Allele Identifier: CA2580084290
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444081
ClinVar RCV Id: RCV003152879
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343602_47343605del , CM000673.2:g.47343602_47343605del GRCh38
NC_000011.9:g.47365153_47365156del , CM000673.1:g.47365153_47365156del GRCh37
NC_000011.8:g.47321729_47321732del NCBI36
NG_007667.1:g.14101_14104del , LRG_386:g.14101_14104del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1113_1116del MANE Select ENSP00000442795.1:p.Ala372ThrfsTer3
ENST00000256993.8:c.1113_1116del ENSP00000256993.5:p.Ala372ThrfsTer3
ENST00000399249.6:c.1113_1116del ENSP00000382193.2:p.Ala372ThrfsTer3
ENST00000544791.1:c.1113_1116del ENSP00000444259.1:p.Ala372ThrfsTer3
ENST00000545968.5:c.1113_1116del ENSP00000442795.1:p.Ala372ThrfsTer3
NM_000256.3:c.1113_1116del , LRG_386t1:c.1113_1116del MANE Select NP_000247.2:p.Ala372ThrfsTer3
XM_011520117.1:c.1095_1098del XP_011518419.1:p.Ala366ThrfsTer3
XM_011520118.1:c.1113_1116del XP_011518420.1:p.Ala372ThrfsTer3
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