Canonical Allele Identifier: CA1969332026

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47338419_47338428delinsCATGCCCGTG , CM000673.2:g.47338419_47338428delinsCATGCCCGTG	GRCh38
NC_000011.9:g.47359970_47359979delinsCATGCCCGTG , CM000673.1:g.47359970_47359979delinsCATGCCCGTG	GRCh37
NC_000011.8:g.47316546_47316555delinsCATGCCCGTG	NCBI36
NG_007667.1:g.19275_19284delinsCACGGGCATG , LRG_386:g.19275_19284delinsCACGGGCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2308+92_2308+101delinsCACGGGCATG MANE Select	ENSP00000442795.1:n.2308+92_2308+101delin...
ENST00000256993.8:c.2308+92_2308+101delinsCACGGGCATG	ENSP00000256993.5:n.2308+92_2308+101delin...
ENST00000399249.6:c.2308+92_2308+101delinsCACGGGCATG	ENSP00000382193.2:n.2308+92_2308+101delin...
ENST00000544791.1:c.2308+92_2308+101delinsCACGGGCATG	ENSP00000444259.1:n.2308+92_2308+101delin...
ENST00000545968.5:c.2308+92_2308+101delinsCACGGGCATG	ENSP00000442795.1:n.2308+92_2308+101delin...
NM_000256.3:c.2308+92_2308+101delinsCACGGGCATG , LRG_386t1:c.2308+92_2308+101delinsCACGGGCATG MANE Select	NP_000247.2:n.2308+92_2308+101delinsCACGG...
XM_011520117.1:c.2290+92_2290+101delinsCACGGGCATG	XP_011518419.1:n.2290+92_2290+101delinsCA...
XM_011520118.1:c.2227+92_2227+101delinsCACGGGCATG	XP_011518420.1:n.2227+92_2227+101delinsCA...