Canonical Allele Identifier: CA1969335975

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342710_47342713delinsTCTC , CM000673.2:g.47342710_47342713delinsTCTC	GRCh38
NC_000011.9:g.47364261_47364264delinsTCTC , CM000673.1:g.47364261_47364264delinsTCTC	GRCh37
NC_000011.8:g.47320837_47320840delinsTCTC	NCBI36
NG_007667.1:g.14990_14993delinsGAGA , LRG_386:g.14990_14993delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1489_1492delinsGAGA MANE Select	ENSP00000442795.1:p.Glu497=
ENST00000256993.8:c.1489_1492delinsGAGA	ENSP00000256993.5:p.Glu497=
ENST00000399249.6:c.1489_1492delinsGAGA	ENSP00000382193.2:p.Glu497=
ENST00000544791.1:c.1489_1492delinsGAGA	ENSP00000444259.1:p.Glu497=
ENST00000545968.5:c.1489_1492delinsGAGA	ENSP00000442795.1:p.Glu497=
NM_000256.3:c.1489_1492delinsGAGA , LRG_386t1:c.1489_1492delinsGAGA MANE Select	NP_000247.2:p.Glu497=
XM_011520117.1:c.1471_1474delinsGAGA	XP_011518419.1:p.Glu491=
XM_011520118.1:c.1489_1492delinsGAGA	XP_011518420.1:p.Glu497=