Canonical Allele Identifier: CA013666
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42693
ClinVar RCV Id: RCV000158392 RCV000168202 RCV000251587
dbSNP Id: rs397516007
gnomAD v4: 11-47333331-T-TG
MyVariant Identifiers: chr11:g.47354883dupG (hg19) chr11:g.47354882_47354883insG (hg19) chr11:g.47333332dupG (hg38) chr11:g.47333331_47333332insG (hg38)
PubMed: PMID:16858239 PMID:20359594 PMID:21302287 PMID:21835320 PMID:23674513 PMID:25740977 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28408708
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333332dup , CM000673.2:g.47333332dup GRCh38
NC_000011.9:g.47354883dup , CM000673.1:g.47354883dup GRCh37
NC_000011.8:g.47311459dup NCBI36
NG_007667.1:g.24371dup , LRG_386:g.24371dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3192dup MANE Select ENSP00000442795.1:p.Lys1065GlnfsTer12
ENST00000256993.8:c.3192dup ENSP00000256993.5:p.Lys1065GlnfsTer12
ENST00000399249.6:c.3192dup ENSP00000382193.2:p.Lys1065GlnfsTer12
ENST00000545968.5:c.3192dup ENSP00000442795.1:p.Lys1065GlnfsTer12
NM_000256.3:c.3192dup , LRG_386t1:c.3192dup MANE Select NP_000247.2:p.Lys1065GlnfsTer12
XM_011520117.1:c.3174dup XP_011518419.1:p.Lys1059GlnfsTer12
XM_011520118.1:c.3111dup XP_011518420.1:p.Lys1038GlnfsTer12
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