Canonical Allele Identifier: CA16613383
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 407313
ClinVar RCV Id: RCV000466875
dbSNP Id: rs1060501478
MyVariant Identifiers: chr11:g.47360100del (hg19) chr11:g.47338549del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338549del , CM000673.2:g.47338549del GRCh38
NC_000011.9:g.47360100del , CM000673.1:g.47360100del GRCh37
NC_000011.8:g.47316676del NCBI36
NG_007667.1:g.19154del , LRG_386:g.19154del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2279del MANE Select ENSP00000442795.1:p.Asp760AlafsTer?
ENST00000256993.8:c.2279del ENSP00000256993.5:p.Asp760AlafsTer?
ENST00000399249.6:c.2279del ENSP00000382193.2:p.Asp760AlafsTer?
ENST00000544791.1:c.2279del ENSP00000444259.1:p.Asp760AlafsTer?
ENST00000545968.5:c.2279del ENSP00000442795.1:p.Asp760AlafsTer?
NM_000256.3:c.2279del , LRG_386t1:c.2279del MANE Select NP_000247.2:p.Asp760AlafsTer?
XM_011520117.1:c.2261del XP_011518419.1:p.Asp754AlafsTer?
XM_011520118.1:c.2198del XP_011518420.1:p.Asp733AlafsTer?
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