Canonical Allele Identifier: CA014212

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332828_47332829del , CM000673.2:g.47332828_47332829del	GRCh38
NC_000011.9:g.47354379_47354380del , CM000673.1:g.47354379_47354380del	GRCh37
NC_000011.8:g.47310955_47310956del	NCBI36
NG_007667.1:g.24875_24876del , LRG_386:g.24875_24876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3476_3477del MANE Select	ENSP00000442795.1:p.Phe1159TyrfsTer9
ENST00000256993.8:c.3476_3477del	ENSP00000256993.5:p.Phe1159TyrfsTer9
ENST00000399249.6:c.3476_3477del	ENSP00000382193.2:p.Phe1159TyrfsTer9
ENST00000545968.5:c.3476_3477del	ENSP00000442795.1:p.Phe1159TyrfsTer9
NM_000256.3:c.3476_3477del , LRG_386t1:c.3476_3477del MANE Select	NP_000247.2:p.Phe1159TyrfsTer9
XM_011520117.1:c.3458_3459del	XP_011518419.1:p.Phe1153TyrfsTer9
XM_011520118.1:c.3395_3396del	XP_011518420.1:p.Phe1132TyrfsTer9