Canonical Allele Identifier: CA2580084202
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783418
ClinVar RCV Id: RCV002421727
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339747_47339758delinsA , CM000673.2:g.47339747_47339758delinsA GRCh38
NC_000011.9:g.47361298_47361309delinsA , CM000673.1:g.47361298_47361309delinsA GRCh37
NC_000011.8:g.47317874_47317885delinsA NCBI36
NG_007667.1:g.17945_17956delinsT , LRG_386:g.17945_17956delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1960_1971delinsT MANE Select ENSP00000442795.1:p.Arg654TyrfsTer9
ENST00000256993.8:c.1960_1971delinsT ENSP00000256993.5:p.Arg654TyrfsTer9
ENST00000399249.6:c.1960_1971delinsT ENSP00000382193.2:p.Arg654TyrfsTer9
ENST00000544791.1:c.1960_1971delinsT ENSP00000444259.1:p.Arg654TyrfsTer9
ENST00000545968.5:c.1960_1971delinsT ENSP00000442795.1:p.Arg654TyrfsTer9
NM_000256.3:c.1960_1971delinsT , LRG_386t1:c.1960_1971delinsT MANE Select NP_000247.2:p.Arg654TyrfsTer9
XM_011520117.1:c.1942_1953delinsT XP_011518419.1:p.Arg648TyrfsTer9
XM_011520118.1:c.1960_1971delinsT XP_011518420.1:p.Arg654TyrfsTer9
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