Canonical Allele Identifier: CA2739291456

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332076_47332099del , CM000673.2:g.47332076_47332099del	GRCh38
NC_000011.9:g.47353627_47353650del , CM000673.1:g.47353627_47353650del	GRCh37
NC_000011.8:g.47310203_47310226del	NCBI36
NG_007667.1:g.25606_25629del , LRG_386:g.25606_25629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3789_3812del MANE Select	ENSP00000442795.1:p.Cys1264_Arg1271del
ENST00000256993.8:c.3789_3812del	ENSP00000256993.5:p.Cys1264_Arg1271del
ENST00000399249.6:c.3789_3812del	ENSP00000382193.2:p.Cys1264_Arg1271del
ENST00000545968.5:c.3789_3812del	ENSP00000442795.1:p.Cys1264_Arg1271del
NM_000256.3:c.3789_3812del , LRG_386t1:c.3789_3812del MANE Select	NP_000247.2:p.Cys1264_Arg1271del
XM_011520117.1:c.3771_3794del	XP_011518419.1:p.Cys1258_Arg1265del
XM_011520118.1:c.3708_3731del	XP_011518420.1:p.Cys1237_Arg1244del