Canonical Allele Identifier: CA049813

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC , CM000673.2:g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC	GRCh38
NC_000011.9:g.47359249_47359250insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC , CM000673.1:g.47359249_47359250insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC	GRCh37
NC_000011.8:g.47315825_47315826insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC	NCBI36
NG_007667.1:g.20004_20005insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG , LRG_386:g.20004_20005insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG MANE Select	ENSP00000442795.1:p.Pro802ArgfsTer36
ENST00000256993.8:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	ENSP00000256993.5:p.Pro802ArgfsTer36
ENST00000399249.6:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	ENSP00000382193.2:p.Pro802ArgfsTer36
ENST00000544791.1:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	ENSP00000444259.1:p.Pro802ArgfsTer?
ENST00000545968.5:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	ENSP00000442795.1:p.Pro802ArgfsTer36
NM_000256.3:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG , LRG_386t1:c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG MANE Select	NP_000247.2:p.Pro802ArgfsTer36
XM_011520117.1:c.2386_2387insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	XP_011518419.1:p.Pro796ArgfsTer36
XM_011520118.1:c.2323_2324insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG	XP_011518420.1:p.Pro775ArgfsTer36