Canonical Allele Identifier: CA1969334463
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341006_47341008delinsGCC , CM000673.2:g.47341006_47341008delinsGCC GRCh38
NC_000011.9:g.47362557_47362559delinsGCC , CM000673.1:g.47362557_47362559delinsGCC GRCh37
NC_000011.8:g.47319133_47319135delinsGCC NCBI36
NG_007667.1:g.16695_16697delinsGGC , LRG_386:g.16695_16697delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1922_1924delinsGGC MANE Select ENSP00000442795.1:p.Arg641=
ENST00000256993.8:c.1922_1924delinsGGC ENSP00000256993.5:p.Arg641=
ENST00000399249.6:c.1922_1924delinsGGC ENSP00000382193.2:p.Arg641=
ENST00000544791.1:c.1922_1924delinsGGC ENSP00000444259.1:p.Arg641=
ENST00000545968.5:c.1922_1924delinsGGC ENSP00000442795.1:p.Arg641=
NM_000256.3:c.1922_1924delinsGGC , LRG_386t1:c.1922_1924delinsGGC MANE Select NP_000247.2:p.Arg641=
XM_011520117.1:c.1904_1906delinsGGC XP_011518419.1:p.Arg635=
XM_011520118.1:c.1922_1924delinsGGC XP_011518420.1:p.Arg641=