Canonical Allele Identifier: CA011744

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339359dup , CM000673.2:g.47339359dup	GRCh38
NC_000011.9:g.47360910dup , CM000673.1:g.47360910dup	GRCh37
NC_000011.8:g.47317486dup	NCBI36
NG_007667.1:g.18344dup , LRG_386:g.18344dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000256.3:c.2113dup , LRG_386t1:c.2113dup MANE Select	NP_000247.2:p.Thr705AsnfsTer3
ENST00000545968.6:c.2113dup MANE Select	ENSP00000442795.1:p.Thr705AsnfsTer3
ENST00000256993.8:c.2113dup	ENSP00000256993.5:p.Thr705AsnfsTer3
ENST00000399249.6:c.2113dup	ENSP00000382193.2:p.Thr705AsnfsTer3
ENST00000544791.1:c.2113dup	ENSP00000444259.1:p.Thr705AsnfsTer3
ENST00000545968.5:c.2113dup	ENSP00000442795.1:p.Thr705AsnfsTer3
XM_011520117.1:c.2095dup	XP_011518419.1:p.Thr699AsnfsTer3
XM_011520118.1:c.2067+292dup	XP_011518420.1:n.2067+292dup