Canonical Allele Identifier: CA2695213943
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347902delinsAA , CM000673.2:g.47347902delinsAA GRCh38
NC_000011.9:g.47369453delinsAA , CM000673.1:g.47369453delinsAA GRCh37
NC_000011.8:g.47326029delinsAA NCBI36
NG_007667.1:g.9801delinsTT , LRG_386:g.9801delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.776delinsTT MANE Select ENSP00000442795.1:p.Ala259ValfsTer27
ENST00000256993.8:c.776delinsTT ENSP00000256993.5:p.Ala259ValfsTer27
ENST00000399249.6:c.776delinsTT ENSP00000382193.2:p.Ala259ValfsTer27
ENST00000544791.1:c.776delinsTT ENSP00000444259.1:p.Ala259ValfsTer27
ENST00000545968.5:c.776delinsTT ENSP00000442795.1:p.Ala259ValfsTer27
NM_000256.3:c.776delinsTT , LRG_386t1:c.776delinsTT MANE Select NP_000247.2:p.Ala259ValfsTer27
XM_011520117.1:c.776delinsTT XP_011518419.1:p.Ala259ValfsTer27
XM_011520118.1:c.776delinsTT XP_011518420.1:p.Ala259ValfsTer27