Canonical Allele Identifier: CA1139659405

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 928261
• ClinVar RCV Id: RCV001192035
• dbSNP Id: rs2095883548

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337492_47337494del , CM000673.2:g.47337492_47337494del	GRCh38
NC_000011.9:g.47359043_47359045del , CM000673.1:g.47359043_47359045del	GRCh37
NC_000011.8:g.47315619_47315621del	NCBI36
NG_007667.1:g.20212_20214del , LRG_386:g.20212_20214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2502_2504del MANE Select	ENSP00000442795.1:p.Arg835del
ENST00000256993.8:c.2502_2504del	ENSP00000256993.5:p.Arg835del
ENST00000399249.6:c.2502_2504del	ENSP00000382193.2:p.Arg835del
ENST00000544791.1:c.*7_*9del	ENSP00000444259.1:n.*7_*9del
ENST00000545968.5:c.2502_2504del	ENSP00000442795.1:p.Arg835del
NM_000256.3:c.2502_2504del , LRG_386t1:c.2502_2504del MANE Select	NP_000247.2:p.Arg835del
XM_011520117.1:c.2484_2486del	XP_011518419.1:p.Arg829del
XM_011520118.1:c.2421_2423del	XP_011518420.1:p.Arg808del