Canonical Allele Identifier: CA351774
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 222704
ClinVar RCV Id: RCV000208099 RCV000622761
dbSNP Id: rs869025463
MyVariant Identifiers: chr11:g.47372102del (hg19) chr11:g.47350551del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47350552del , CM000673.2:g.47350552del GRCh38
NC_000011.9:g.47372103del , CM000673.1:g.47372103del GRCh37
NC_000011.8:g.47328679del NCBI36
NG_007667.1:g.7152del , LRG_386:g.7152del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.357del MANE Select ENSP00000442795.1:p.Ala120ProfsTer?
ENST00000256993.8:c.357del ENSP00000256993.5:p.Ala120ProfsTer?
ENST00000399249.6:c.357del ENSP00000382193.2:p.Ala120ProfsTer?
ENST00000544791.1:c.357del ENSP00000444259.1:p.Ala120ProfsTer?
ENST00000545968.5:c.357del ENSP00000442795.1:p.Ala120ProfsTer?
NM_000256.3:c.357del , LRG_386t1:c.357del MANE Select NP_000247.2:p.Ala120ProfsTer?
XM_011520117.1:c.357del XP_011518419.1:p.Ala120ProfsTer?
XM_011520118.1:c.357del XP_011518420.1:p.Ala120ProfsTer?
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