Canonical Allele Identifier: CA16613639

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 407318
• ClinVar RCV Id: RCV000458057 ; RCV001805066
• dbSNP Id: rs1060501479
• MyVariant Identifiers: chr11:g.47373016_47373017insC (hg19) ; chr11:g.47351465_47351466insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351465_47351466insC , CM000673.2:g.47351465_47351466insC	GRCh38
NC_000011.9:g.47373016_47373017insC , CM000673.1:g.47373016_47373017insC	GRCh37
NC_000011.8:g.47329592_47329593insC	NCBI36
NG_007667.1:g.6237_6238insG , LRG_386:g.6237_6238insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.65_66insG MANE Select	ENSP00000442795.1:p.Ala23ArgfsTer26
ENST00000256993.8:c.65_66insG	ENSP00000256993.5:p.Ala23ArgfsTer26
ENST00000399249.6:c.65_66insG	ENSP00000382193.2:p.Ala23ArgfsTer26
ENST00000544791.1:c.65_66insG	ENSP00000444259.1:p.Ala23ArgfsTer26
ENST00000545968.5:c.65_66insG	ENSP00000442795.1:p.Ala23ArgfsTer26
NM_000256.3:c.65_66insG , LRG_386t1:c.65_66insG MANE Select	NP_000247.2:p.Ala23ArgfsTer26
XM_011520117.1:c.65_66insG	XP_011518419.1:p.Ala23ArgfsTer26
XM_011520118.1:c.65_66insG	XP_011518420.1:p.Ala23ArgfsTer26