Canonical Allele Identifier: CA2697548549

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2773757
• ClinVar RCV Id: RCV003532631

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346298del , CM000673.2:g.47346298del	GRCh38
NC_000011.9:g.47367849del , CM000673.1:g.47367849del	GRCh37
NC_000011.8:g.47324425del	NCBI36
NG_007667.1:g.11405del , LRG_386:g.11405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.999del MANE Select	ENSP00000442795.1:p.Tyr333Ter
ENST00000256993.8:c.999del	ENSP00000256993.5:p.Tyr333Ter
ENST00000399249.6:c.999del	ENSP00000382193.2:p.Tyr333Ter
ENST00000544791.1:c.999del	ENSP00000444259.1:p.Tyr333Ter
ENST00000545968.5:c.999del	ENSP00000442795.1:p.Tyr333Ter
NM_000256.3:c.999del , LRG_386t1:c.999del MANE Select	NP_000247.2:p.Tyr333Ter
XM_011520117.1:c.981del	XP_011518419.1:p.Tyr327Ter
XM_011520118.1:c.999del	XP_011518420.1:p.Tyr333Ter