Canonical Allele Identifier: CA1969342673
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351350_47351352delinsCCT , CM000673.2:g.47351350_47351352delinsCCT GRCh38
NC_000011.9:g.47372901_47372903delinsCCT , CM000673.1:g.47372901_47372903delinsCCT GRCh37
NC_000011.8:g.47329477_47329479delinsCCT NCBI36
NG_007667.1:g.6351_6353delinsAGG , LRG_386:g.6351_6353delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.179_181delinsAGG MANE Select ENSP00000442795.1:p.Glu60=
ENST00000256993.8:c.179_181delinsAGG ENSP00000256993.5:p.Glu60=
ENST00000399249.6:c.179_181delinsAGG ENSP00000382193.2:p.Glu60=
ENST00000544791.1:c.179_181delinsAGG ENSP00000444259.1:p.Glu60=
ENST00000545968.5:c.179_181delinsAGG ENSP00000442795.1:p.Glu60=
NM_000256.3:c.179_181delinsAGG , LRG_386t1:c.179_181delinsAGG MANE Select NP_000247.2:p.Glu60=
XM_011520117.1:c.179_181delinsAGG XP_011518419.1:p.Glu60=
XM_011520118.1:c.179_181delinsAGG XP_011518420.1:p.Glu60=