Canonical Allele Identifier: CA013018
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42660
ClinVar RCV Id: RCV000158380 RCV000818526 RCV001807750
dbSNP Id: rs397515987
gnomAD v2: 11-47356663-CCG-C
gnomAD v4: 11-47335112-CCG-C
MyVariant Identifiers: chr11:g.47356664_47356665del (hg19) chr11:g.47335113_47335114del (hg38)
PubMed: PMID:9241277 PMID:11835941 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335114_47335115del , CM000673.2:g.47335114_47335115del GRCh38
NC_000011.9:g.47356665_47356666del , CM000673.1:g.47356665_47356666del GRCh37
NC_000011.8:g.47313241_47313242del NCBI36
NG_007667.1:g.22589_22590del , LRG_386:g.22589_22590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2833_2834del MANE Select ENSP00000442795.1:p.Arg945GlyfsTer?
ENST00000256993.8:c.2833_2834del ENSP00000256993.5:p.Arg945GlyfsTer?
ENST00000399249.6:c.2833_2834del ENSP00000382193.2:p.Arg945GlyfsTer?
ENST00000545968.5:c.2833_2834del ENSP00000442795.1:p.Arg945GlyfsTer?
NM_000256.3:c.2833_2834del , LRG_386t1:c.2833_2834del MANE Select NP_000247.2:p.Arg945GlyfsTer?
XM_011520117.1:c.2815_2816del XP_011518419.1:p.Arg939GlyfsTer?
XM_011520118.1:c.2752_2753del XP_011518420.1:p.Arg918GlyfsTer?
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