Canonical Allele Identifier: CA2791331365
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351115_47351116dup , CM000673.2:g.47351115_47351116dup GRCh38
NC_000011.9:g.47372666_47372667dup , CM000673.1:g.47372666_47372667dup GRCh37
NC_000011.8:g.47329242_47329243dup NCBI36
NG_007667.1:g.6591_6592dup , LRG_386:g.6591_6592dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.292+127_292+128dup MANE Select ENSP00000442795.1:n.292+127_292+128dup
ENST00000256993.8:c.292+127_292+128dup ENSP00000256993.5:n.292+127_292+128dup
ENST00000399249.6:c.292+127_292+128dup ENSP00000382193.2:n.292+127_292+128dup
ENST00000544791.1:c.292+127_292+128dup ENSP00000444259.1:n.292+127_292+128dup
ENST00000545968.5:c.292+127_292+128dup ENSP00000442795.1:n.292+127_292+128dup
NM_000256.3:c.292+127_292+128dup , LRG_386t1:c.292+127_292+128dup MANE Select NP_000247.2:n.292+127_292+128dup
XM_011520117.1:c.292+127_292+128dup XP_011518419.1:n.292+127_292+128dup
XM_011520118.1:c.292+127_292+128dup XP_011518420.1:n.292+127_292+128dup