Canonical Allele Identifier: CA913187726
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 920838
ClinVar RCV Id: RCV001179887
dbSNP Id: rs2095883988
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337743_47337745dup , CM000673.2:g.47337743_47337745dup GRCh38
NC_000011.9:g.47359294_47359296dup , CM000673.1:g.47359294_47359296dup GRCh37
NC_000011.8:g.47315870_47315872dup NCBI36
NG_007667.1:g.19960_19962dup , LRG_386:g.19960_19962dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2360_2362dup MANE Select ENSP00000442795.1:p.Ser787_Cys788insSer
ENST00000256993.8:c.2360_2362dup ENSP00000256993.5:p.Ser787_Cys788insSer
ENST00000399249.6:c.2360_2362dup ENSP00000382193.2:p.Ser787_Cys788insSer
ENST00000544791.1:c.2360_2362dup ENSP00000444259.1:p.Ser787_Cys788insSer
ENST00000545968.5:c.2360_2362dup ENSP00000442795.1:p.Ser787_Cys788insSer
NM_000256.3:c.2360_2362dup , LRG_386t1:c.2360_2362dup MANE Select NP_000247.2:p.Ser787_Cys788insSer
XM_011520117.1:c.2342_2344dup XP_011518419.1:p.Ser781_Cys782insSer
XM_011520118.1:c.2279_2281dup XP_011518420.1:p.Ser760_Cys761insSer
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