Canonical Allele Identifier: CA010909
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 177864
ClinVar RCV Id: RCV000154502 RCV001251170
dbSNP Id: rs727504366
gnomAD v4: 11-47342102-TC-T
MyVariant Identifiers: chr11:g.47363654del (hg19) chr11:g.47342103del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342104del , CM000673.2:g.47342104del GRCh38
NC_000011.9:g.47363655del , CM000673.1:g.47363655del GRCh37
NC_000011.8:g.47320231del NCBI36
NG_007667.1:g.15600del , LRG_386:g.15600del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1678del MANE Select ENSP00000442795.1:p.Asp560ThrfsTer19
ENST00000256993.8:c.1678del ENSP00000256993.5:p.Asp560ThrfsTer19
ENST00000399249.6:c.1678del ENSP00000382193.2:p.Asp560ThrfsTer19
ENST00000544791.1:c.1678del ENSP00000444259.1:p.Asp560ThrfsTer19
ENST00000545968.5:c.1678del ENSP00000442795.1:p.Asp560ThrfsTer19
NM_000256.3:c.1678del , LRG_386t1:c.1678del MANE Select NP_000247.2:p.Asp560ThrfsTer19
XM_011520117.1:c.1660del XP_011518419.1:p.Asp554ThrfsTer19
XM_011520118.1:c.1678del XP_011518420.1:p.Asp560ThrfsTer19
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