Canonical Allele Identifier: CA2695212758
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337473del , CM000673.2:g.47337473del GRCh38
NC_000011.9:g.47359024del , CM000673.1:g.47359024del GRCh37
NC_000011.8:g.47315600del NCBI36
NG_007667.1:g.20231del , LRG_386:g.20231del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2521del MANE Select ENSP00000442795.1:p.Val841CysfsTer?
ENST00000256993.8:c.2521del ENSP00000256993.5:p.Val841CysfsTer?
ENST00000399249.6:c.2521del ENSP00000382193.2:p.Val841CysfsTer?
ENST00000544791.1:c.*26del ENSP00000444259.1:n.*26del
ENST00000545968.5:c.2521del ENSP00000442795.1:p.Val841CysfsTer?
NM_000256.3:c.2521del , LRG_386t1:c.2521del MANE Select NP_000247.2:p.Val841CysfsTer?
XM_011520117.1:c.2503del XP_011518419.1:p.Val835CysfsTer?
XM_011520118.1:c.2440del XP_011518420.1:p.Val814CysfsTer?