Canonical Allele Identifier: CA180812
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 177816
ClinVar RCV Id: RCV000154449 RCV000548289 RCV000618834 RCV001524502
dbSNP Id: rs727504335
MyVariant Identifiers: chr11:g.47372843delinsCCTC (hg19) chr11:g.47351292delinsCCTC (hg38)
PubMed: PMID:20474083 PMID:22464770 PMID:24503780 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351292delinsCCTC , CM000673.2:g.47351292delinsCCTC GRCh38
NC_000011.9:g.47372843delinsCCTC , CM000673.1:g.47372843delinsCCTC GRCh37
NC_000011.8:g.47329419delinsCCTC NCBI36
NG_007667.1:g.6411delinsGAGG , LRG_386:g.6411delinsGAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.239delinsGAGG MANE Select ENSP00000442795.1:p.Ala80delinsGlyGly
ENST00000256993.8:c.239delinsGAGG ENSP00000256993.5:p.Ala80delinsGlyGly
ENST00000399249.6:c.239delinsGAGG ENSP00000382193.2:p.Ala80delinsGlyGly
ENST00000544791.1:c.239delinsGAGG ENSP00000444259.1:p.Ala80delinsGlyGly
ENST00000545968.5:c.239delinsGAGG ENSP00000442795.1:p.Ala80delinsGlyGly
NM_000256.3:c.239delinsGAGG , LRG_386t1:c.239delinsGAGG MANE Select NP_000247.2:p.Ala80delinsGlyGly
XM_011520117.1:c.239delinsGAGG XP_011518419.1:p.Ala80delinsGlyGly
XM_011520118.1:c.239delinsGAGG XP_011518420.1:p.Ala80delinsGlyGly
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