Canonical Allele Identifier: CA2695213946

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333699dup , CM000673.2:g.47333699dup	GRCh38
NC_000011.9:g.47355250dup , CM000673.1:g.47355250dup	GRCh37
NC_000011.8:g.47311826dup	NCBI36
NG_007667.1:g.24004dup , LRG_386:g.24004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3048dup MANE Select	ENSP00000442795.1:p.Glu1017ArgfsTer?
ENST00000256993.8:c.3048dup	ENSP00000256993.5:p.Glu1017ArgfsTer?
ENST00000399249.6:c.3048dup	ENSP00000382193.2:p.Glu1017ArgfsTer?
ENST00000545968.5:c.3048dup	ENSP00000442795.1:p.Glu1017ArgfsTer?
NM_000256.3:c.3048dup , LRG_386t1:c.3048dup MANE Select	NP_000247.2:p.Glu1017ArgfsTer?
XM_011520117.1:c.3030dup	XP_011518419.1:p.Glu1011ArgfsTer?
XM_011520118.1:c.2967dup	XP_011518420.1:p.Glu990ArgfsTer?