Canonical Allele Identifier: CA2580615677

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1733158
• ClinVar RCV Id: RCV002455271

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332588_47332592dup , CM000673.2:g.47332588_47332592dup	GRCh38
NC_000011.9:g.47354139_47354143dup , CM000673.1:g.47354139_47354143dup	GRCh37
NC_000011.8:g.47310715_47310719dup	NCBI36
NG_007667.1:g.25117_25121dup , LRG_386:g.25117_25121dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3607_3611dup MANE Select	ENSP00000442795.1:p.Arg1205LeufsTer?
ENST00000256993.8:c.3607_3611dup	ENSP00000256993.5:p.Arg1205LeufsTer?
ENST00000399249.6:c.3607_3611dup	ENSP00000382193.2:p.Arg1205LeufsTer?
ENST00000545968.5:c.3607_3611dup	ENSP00000442795.1:p.Arg1205LeufsTer?
NM_000256.3:c.3607_3611dup , LRG_386t1:c.3607_3611dup MANE Select	NP_000247.2:p.Arg1205LeufsTer?
XM_011520117.1:c.3589_3593dup	XP_011518419.1:p.Arg1199LeufsTer?
XM_011520118.1:c.3526_3530dup	XP_011518420.1:p.Arg1178LeufsTer?