Canonical Allele Identifier: CA2573051215
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332588del , CM000673.2:g.47332588del GRCh38
NC_000011.9:g.47354139del , CM000673.1:g.47354139del GRCh37
NC_000011.8:g.47310715del NCBI36
NG_007667.1:g.25115del , LRG_386:g.25115del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3605del MANE Select ENSP00000442795.1:p.Cys1202LeufsTer?
ENST00000256993.8:c.3605del ENSP00000256993.5:p.Cys1202LeufsTer?
ENST00000399249.6:c.3605del ENSP00000382193.2:p.Cys1202LeufsTer?
ENST00000545968.5:c.3605del ENSP00000442795.1:p.Cys1202LeufsTer?
NM_000256.3:c.3605del , LRG_386t1:c.3605del MANE Select NP_000247.2:p.Cys1202LeufsTer?
XM_011520117.1:c.3587del XP_011518419.1:p.Cys1196LeufsTer?
XM_011520118.1:c.3524del XP_011518420.1:p.Cys1175LeufsTer?