Canonical Allele Identifier: CA2580084212
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2442882
ClinVar RCV Id: RCV003150688

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347905_47347912dup , CM000673.2:g.47347905_47347912dup GRCh38
NC_000011.9:g.47369456_47369463dup , CM000673.1:g.47369456_47369463dup GRCh37
NC_000011.8:g.47326032_47326039dup NCBI36
NG_007667.1:g.9791_9798dup , LRG_386:g.9791_9798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.773-7_773dup
ENST00000256993.8:c.773-7_773dup
ENST00000399249.6:c.773-7_773dup
ENST00000544791.1:c.773-7_773dup
ENST00000545968.5:c.773-7_773dup
NM_000256.3:c.773-7_773dup , LRG_386t1:c.773-7_773dup
XM_011520117.1:c.773-7_773dup
XM_011520118.1:c.773-7_773dup