Canonical Allele Identifier: CA010821
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 177637
ClinVar RCV Id: RCV000154220
dbSNP Id: rs727504248
MyVariant Identifiers: chr11:g.47363704del (hg19) chr11:g.47342153del (hg38)
PubMed: PMID:20474083 PMID:21415409
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342156del , CM000673.2:g.47342156del GRCh38
NC_000011.9:g.47363707del , CM000673.1:g.47363707del GRCh37
NC_000011.8:g.47320283del NCBI36
NG_007667.1:g.15550del , LRG_386:g.15550del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1628del MANE Select ENSP00000442795.1:p.Lys543ArgfsTer12
ENST00000256993.8:c.1628del ENSP00000256993.5:p.Lys543ArgfsTer12
ENST00000399249.6:c.1628del ENSP00000382193.2:p.Lys543ArgfsTer12
ENST00000544791.1:c.1628del ENSP00000444259.1:p.Lys543ArgfsTer12
ENST00000545968.5:c.1628del ENSP00000442795.1:p.Lys543ArgfsTer12
NM_000256.3:c.1628del , LRG_386t1:c.1628del MANE Select NP_000247.2:p.Lys543ArgfsTer12
XM_011520117.1:c.1610del XP_011518419.1:p.Lys537ArgfsTer12
XM_011520118.1:c.1628del XP_011518420.1:p.Lys543ArgfsTer12
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