Canonical Allele Identifier: CA2573051241

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332570_47332573dup , CM000673.2:g.47332570_47332573dup	GRCh38
NC_000011.9:g.47354121_47354124dup , CM000673.1:g.47354121_47354124dup	GRCh37
NC_000011.8:g.47310697_47310700dup	NCBI36
NG_007667.1:g.25130_25133dup , LRG_386:g.25130_25133dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3620_3623dup MANE Select	ENSP00000442795.1:p.Lys1209ProfsTer?
ENST00000256993.8:c.3620_3623dup	ENSP00000256993.5:p.Lys1209ProfsTer?
ENST00000399249.6:c.3620_3623dup	ENSP00000382193.2:p.Lys1209ProfsTer?
ENST00000545968.5:c.3620_3623dup	ENSP00000442795.1:p.Lys1209ProfsTer?
NM_000256.3:c.3620_3623dup , LRG_386t1:c.3620_3623dup MANE Select	NP_000247.2:p.Lys1209ProfsTer?
XM_011520117.1:c.3602_3605dup	XP_011518419.1:p.Lys1203ProfsTer?
XM_011520118.1:c.3539_3542dup	XP_011518420.1:p.Lys1182ProfsTer?