Canonical Allele Identifier: CA2580084278
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1754401
ClinVar RCV Id: RCV002375826 RCV003748403
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343109_47343184del , CM000673.2:g.47343109_47343184del GRCh38
NC_000011.9:g.47364660_47364735del , CM000673.1:g.47364660_47364735del GRCh37
NC_000011.8:g.47321236_47321311del NCBI36
NG_007667.1:g.14519_14594del , LRG_386:g.14519_14594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1227-39_1263del
ENST00000256993.8:c.1224-36_1263del
ENST00000399249.6:c.1227-39_1263del
ENST00000544791.1:c.1227-39_1263del
ENST00000545968.5:c.1227-39_1263del
NM_000256.3:c.1227-39_1263del , LRG_386t1:c.1227-39_1263del
XM_011520117.1:c.1209-39_1245del
XM_011520118.1:c.1227-39_1263del
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