Canonical Allele Identifier: CA1969342664
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351340_47351351delinsTGCCGTGTGCCC , CM000673.2:g.47351340_47351351delinsTGCCGTGTGCCC GRCh38
NC_000011.9:g.47372891_47372902delinsTGCCGTGTGCCC , CM000673.1:g.47372891_47372902delinsTGCCGTGTGCCC GRCh37
NC_000011.8:g.47329467_47329478delinsTGCCGTGTGCCC NCBI36
NG_007667.1:g.6352_6363delinsGGGCACACGGCA , LRG_386:g.6352_6363delinsGGGCACACGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.180_191delinsGGGCACACGGCA MANE Select ENSP00000442795.1:p.Glu60=
ENST00000256993.8:c.180_191delinsGGGCACACGGCA ENSP00000256993.5:p.Glu60=
ENST00000399249.6:c.180_191delinsGGGCACACGGCA ENSP00000382193.2:p.Glu60=
ENST00000544791.1:c.180_191delinsGGGCACACGGCA ENSP00000444259.1:p.Glu60=
ENST00000545968.5:c.180_191delinsGGGCACACGGCA ENSP00000442795.1:p.Glu60=
NM_000256.3:c.180_191delinsGGGCACACGGCA , LRG_386t1:c.180_191delinsGGGCACACGGCA MANE Select NP_000247.2:p.Glu60=
XM_011520117.1:c.180_191delinsGGGCACACGGCA XP_011518419.1:p.Glu60=
XM_011520118.1:c.180_191delinsGGGCACACGGCA XP_011518420.1:p.Glu60=