Canonical Allele Identifier: CA2573051240
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337775dup , CM000673.2:g.47337775dup GRCh38
NC_000011.9:g.47359326dup , CM000673.1:g.47359326dup GRCh37
NC_000011.8:g.47315902dup NCBI36
NG_007667.1:g.19929dup , LRG_386:g.19929dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2329dup MANE Select ENSP00000442795.1:p.Ala777GlyfsTer?
ENST00000256993.8:c.2329dup ENSP00000256993.5:p.Ala777GlyfsTer?
ENST00000399249.6:c.2329dup ENSP00000382193.2:p.Ala777GlyfsTer?
ENST00000544791.1:c.2329dup ENSP00000444259.1:p.Ala777GlyfsTer?
ENST00000545968.5:c.2329dup ENSP00000442795.1:p.Ala777GlyfsTer?
NM_000256.3:c.2329dup , LRG_386t1:c.2329dup MANE Select NP_000247.2:p.Ala777GlyfsTer?
XM_011520117.1:c.2311dup XP_011518419.1:p.Ala771GlyfsTer?
XM_011520118.1:c.2248dup XP_011518420.1:p.Ala750GlyfsTer?