Canonical Allele Identifier: CA2791331695
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47352582_47352583dup , CM000673.2:g.47352582_47352583dup GRCh38
NC_000011.9:g.47374133_47374134dup , CM000673.1:g.47374133_47374134dup GRCh37
NC_000011.8:g.47330709_47330710dup NCBI36
NG_007667.1:g.5124_5125dup , LRG_386:g.5124_5125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.25+44_25+45dup MANE Select ENSP00000442795.1:n.25+44_25+45dup
ENST00000256993.8:c.25+44_25+45dup ENSP00000256993.5:n.25+44_25+45dup
ENST00000399249.6:c.25+44_25+45dup ENSP00000382193.2:n.25+44_25+45dup
ENST00000544791.1:c.25+44_25+45dup ENSP00000444259.1:n.25+44_25+45dup
ENST00000545968.5:c.25+44_25+45dup ENSP00000442795.1:n.25+44_25+45dup
NM_000256.3:c.25+44_25+45dup , LRG_386t1:c.25+44_25+45dup MANE Select NP_000247.2:n.25+44_25+45dup
XM_011520117.1:c.25+44_25+45dup XP_011518419.1:n.25+44_25+45dup
XM_011520118.1:c.25+44_25+45dup XP_011518420.1:n.25+44_25+45dup