Canonical Allele Identifier: CA352432
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 222706
ClinVar RCV Id: RCV000208490 RCV000699273
dbSNP Id: rs869025465
MyVariant Identifiers: chr11:g.47365098_47365113del (hg19) chr11:g.47343547_47343562del (hg38)
PubMed: PMID:15114369
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343555_47343570del , CM000673.2:g.47343555_47343570del GRCh38
NC_000011.9:g.47365106_47365121del , CM000673.1:g.47365106_47365121del GRCh37
NC_000011.8:g.47321682_47321697del NCBI36
NG_007667.1:g.14141_14156del , LRG_386:g.14141_14156del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1153_1168del MANE Select ENSP00000442795.1:p.Val385MetfsTer16
ENST00000256993.8:c.1153_1168del ENSP00000256993.5:p.Val385MetfsTer16
ENST00000399249.6:c.1153_1168del ENSP00000382193.2:p.Val385MetfsTer16
ENST00000544791.1:c.1153_1168del ENSP00000444259.1:p.Val385MetfsTer16
ENST00000545968.5:c.1153_1168del ENSP00000442795.1:p.Val385MetfsTer16
NM_000256.3:c.1153_1168del , LRG_386t1:c.1153_1168del MANE Select NP_000247.2:p.Val385MetfsTer16
XM_011520117.1:c.1135_1150del XP_011518419.1:p.Val379MetfsTer16
XM_011520118.1:c.1153_1168del XP_011518420.1:p.Val385MetfsTer16
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