Canonical Allele Identifier: CA011058

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42565
• ClinVar RCV Id: RCV000461041 ; RCV000586702 ; RCV001188337 ; RCV000158384 ; RCV002228152 ; RCV003447480 ; RCV000850018 ; RCV001258108
• dbSNP Id: rs397515925
• gnomAD v3: 11-47351343-CGTGTGCCCTCT-C
• gnomAD v4: 11-47351343-CGTGTGCCCTCT-C
• MyVariant Identifiers: chr11:g.47372895_47372905del (hg19) ; chr11:g.47351344_47351354del (hg38)
• PubMed: PMID:15519027 ; PMID:20474083 ; PMID:21415409 ; PMID:21943931 ; PMID:23396983 ; PMID:23690394 ; PMID:24510615 ; PMID:25543971 ; PMID:25611685 ; PMID:26914223 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351347_47351357del , CM000673.2:g.47351347_47351357del	GRCh38
NC_000011.9:g.47372898_47372908del , CM000673.1:g.47372898_47372908del	GRCh37
NC_000011.8:g.47329474_47329484del	NCBI36
NG_007667.1:g.6349_6359del , LRG_386:g.6349_6359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.177_187del MANE Select	ENSP00000442795.1:p.Glu60AlafsTer?
ENST00000256993.8:c.177_187del	ENSP00000256993.5:p.Glu60AlafsTer?
ENST00000399249.6:c.177_187del	ENSP00000382193.2:p.Glu60AlafsTer?
ENST00000544791.1:c.177_187del	ENSP00000444259.1:p.Glu60AlafsTer?
ENST00000545968.5:c.177_187del	ENSP00000442795.1:p.Glu60AlafsTer?
NM_000256.3:c.177_187del , LRG_386t1:c.177_187del MANE Select	NP_000247.2:p.Glu60AlafsTer?
XM_011520117.1:c.177_187del	XP_011518419.1:p.Glu60AlafsTer?
XM_011520118.1:c.177_187del	XP_011518420.1:p.Glu60AlafsTer?