Canonical Allele Identifier: CA1969342645
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351309_47351310delinsGG , CM000673.2:g.47351309_47351310delinsGG GRCh38
NC_000011.9:g.47372860_47372861delinsGG , CM000673.1:g.47372860_47372861delinsGG GRCh37
NC_000011.8:g.47329436_47329437delinsGG NCBI36
NG_007667.1:g.6393_6394delinsCC , LRG_386:g.6393_6394delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.221_222delinsCC MANE Select ENSP00000442795.1:p.Ala74=
ENST00000256993.8:c.221_222delinsCC ENSP00000256993.5:p.Ala74=
ENST00000399249.6:c.221_222delinsCC ENSP00000382193.2:p.Ala74=
ENST00000544791.1:c.221_222delinsCC ENSP00000444259.1:p.Ala74=
ENST00000545968.5:c.221_222delinsCC ENSP00000442795.1:p.Ala74=
NM_000256.3:c.221_222delinsCC , LRG_386t1:c.221_222delinsCC MANE Select NP_000247.2:p.Ala74=
XM_011520117.1:c.221_222delinsCC XP_011518419.1:p.Ala74=
XM_011520118.1:c.221_222delinsCC XP_011518420.1:p.Ala74=