Canonical Allele Identifier: CA2697548565
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691208
ClinVar RCV Id: RCV003487241
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351439del , CM000673.2:g.47351439del GRCh38
NC_000011.9:g.47372990del , CM000673.1:g.47372990del GRCh37
NC_000011.8:g.47329566del NCBI36
NG_007667.1:g.6265del , LRG_386:g.6265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.93del MANE Select ENSP00000442795.1:p.Glu32ArgfsTer7
ENST00000256993.8:c.93del ENSP00000256993.5:p.Glu32ArgfsTer7
ENST00000399249.6:c.93del ENSP00000382193.2:p.Glu32ArgfsTer7
ENST00000544791.1:c.93del ENSP00000444259.1:p.Glu32ArgfsTer7
ENST00000545968.5:c.93del ENSP00000442795.1:p.Glu32ArgfsTer7
NM_000256.3:c.93del , LRG_386t1:c.93del MANE Select NP_000247.2:p.Glu32ArgfsTer7
XM_011520117.1:c.93del XP_011518419.1:p.Glu32ArgfsTer7
XM_011520118.1:c.93del XP_011518420.1:p.Glu32ArgfsTer7
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Search 100 bp 3'