Canonical Allele Identifier: CA1969337175
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343540_47343541delinsGC , CM000673.2:g.47343540_47343541delinsGC GRCh38
NC_000011.9:g.47365091_47365092delinsGC , CM000673.1:g.47365091_47365092delinsGC GRCh37
NC_000011.8:g.47321667_47321668delinsGC NCBI36
NG_007667.1:g.14162_14163delinsGC , LRG_386:g.14162_14163delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1174_1175delinsGC MANE Select ENSP00000442795.1:p.Ala392=
ENST00000256993.8:c.1174_1175delinsGC ENSP00000256993.5:p.Ala392=
ENST00000399249.6:c.1174_1175delinsGC ENSP00000382193.2:p.Ala392=
ENST00000544791.1:c.1174_1175delinsGC ENSP00000444259.1:p.Ala392=
ENST00000545968.5:c.1174_1175delinsGC ENSP00000442795.1:p.Ala392=
NM_000256.3:c.1174_1175delinsGC , LRG_386t1:c.1174_1175delinsGC MANE Select NP_000247.2:p.Ala392=
XM_011520117.1:c.1156_1157delinsGC XP_011518419.1:p.Ala386=
XM_011520118.1:c.1174_1175delinsGC XP_011518420.1:p.Ala392=