Canonical Allele Identifier: CA645369136

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332096_47332097del , CM000673.2:g.47332096_47332097del	GRCh38
NC_000011.9:g.47353647_47353648del , CM000673.1:g.47353647_47353648del	GRCh37
NC_000011.8:g.47310223_47310224del	NCBI36
NG_007667.1:g.25609_25610del , LRG_386:g.25609_25610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3792_3793del MANE Select	ENSP00000442795.1:p.Cys1264Ter
ENST00000256993.8:c.3792_3793del	ENSP00000256993.5:p.Cys1264Ter
ENST00000399249.6:c.3792_3793del	ENSP00000382193.2:p.Cys1264Ter
ENST00000545968.5:c.3792_3793del	ENSP00000442795.1:p.Cys1264Ter
NM_000256.3:c.3792_3793del , LRG_386t1:c.3792_3793del MANE Select	NP_000247.2:p.Cys1264Ter
XM_011520117.1:c.3774_3775del	XP_011518419.1:p.Cys1258Ter
XM_011520118.1:c.3711_3712del	XP_011518420.1:p.Cys1237Ter