Canonical Allele Identifier: CA012205

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337709dup , CM000673.2:g.47337709dup	GRCh38
NC_000011.9:g.47359260dup , CM000673.1:g.47359260dup	GRCh37
NC_000011.8:g.47315836dup	NCBI36
NG_007667.1:g.19994dup , LRG_386:g.19994dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000256.3:c.2394dup , LRG_386t1:c.2394dup MANE Select	NP_000247.2:p.Gly799TrpfsTer?
ENST00000545968.6:c.2394dup MANE Select	ENSP00000442795.1:p.Gly799TrpfsTer?
ENST00000256993.8:c.2394dup	ENSP00000256993.5:p.Gly799TrpfsTer?
ENST00000399249.6:c.2394dup	ENSP00000382193.2:p.Gly799TrpfsTer?
ENST00000544791.1:c.2394dup	ENSP00000444259.1:p.Gly799TrpfsTer9
ENST00000545968.5:c.2394dup	ENSP00000442795.1:p.Gly799TrpfsTer?
XM_011520117.1:c.2376dup	XP_011518419.1:p.Gly793TrpfsTer?
XM_011520118.1:c.2313dup	XP_011518420.1:p.Gly772TrpfsTer?