Canonical Allele Identifier: CA1969339707
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346368_47346370delinsTCC , CM000673.2:g.47346368_47346370delinsTCC GRCh38
NC_000011.9:g.47367919_47367921delinsTCC , CM000673.1:g.47367919_47367921delinsTCC GRCh37
NC_000011.8:g.47324495_47324497delinsTCC NCBI36
NG_007667.1:g.11333_11335delinsGGA , LRG_386:g.11333_11335delinsGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.927_929delinsGGA MANE Select ENSP00000442795.1:p.Arg309=
ENST00000256993.8:c.927_929delinsGGA ENSP00000256993.5:p.Arg309=
ENST00000399249.6:c.927_929delinsGGA ENSP00000382193.2:p.Arg309=
ENST00000544791.1:c.927_929delinsGGA ENSP00000444259.1:p.Arg309=
ENST00000545968.5:c.927_929delinsGGA ENSP00000442795.1:p.Arg309=
NM_000256.3:c.927_929delinsGGA , LRG_386t1:c.927_929delinsGGA MANE Select NP_000247.2:p.Arg309=
XM_011520117.1:c.909_911delinsGGA XP_011518419.1:p.Glu303=
XM_011520118.1:c.927_929delinsGGA XP_011518420.1:p.Arg309=