Canonical Allele Identifier: CA273635
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 179537
ClinVar RCV Id: RCV000156329 RCV003149955
dbSNP Id: rs730880362
MyVariant Identifiers: chr11:g.47372867_47372868dupCC (hg19) chr11:g.47372866_47372867insCC (hg19) chr11:g.47351316_47351317dupCC (hg38) chr11:g.47351315_47351316insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351317_47351318dup , CM000673.2:g.47351317_47351318dup GRCh38
NC_000011.9:g.47372868_47372869dup , CM000673.1:g.47372868_47372869dup GRCh37
NC_000011.8:g.47329444_47329445dup NCBI36
NG_007667.1:g.6386_6387dup , LRG_386:g.6386_6387dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.214_215dup MANE Select ENSP00000442795.1:p.Pro73AlafsTer24
ENST00000256993.8:c.214_215dup ENSP00000256993.5:p.Pro73AlafsTer24
ENST00000399249.6:c.214_215dup ENSP00000382193.2:p.Pro73AlafsTer24
ENST00000544791.1:c.214_215dup ENSP00000444259.1:p.Pro73AlafsTer24
ENST00000545968.5:c.214_215dup ENSP00000442795.1:p.Pro73AlafsTer24
NM_000256.3:c.214_215dup , LRG_386t1:c.214_215dup MANE Select NP_000247.2:p.Pro73AlafsTer24
XM_011520117.1:c.214_215dup XP_011518419.1:p.Pro73AlafsTer24
XM_011520118.1:c.214_215dup XP_011518420.1:p.Pro73AlafsTer24
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