Canonical Allele Identifier: CA1969334625

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341159_47341163delinsACAGG , CM000673.2:g.47341159_47341163delinsACAGG	GRCh38
NC_000011.9:g.47362710_47362714delinsACAGG , CM000673.1:g.47362710_47362714delinsACAGG	GRCh37
NC_000011.8:g.47319286_47319290delinsACAGG	NCBI36
NG_007667.1:g.16540_16544delinsCCTGT , LRG_386:g.16540_16544delinsCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1872_1876delinsCCTGT MANE Select	ENSP00000442795.1:p.Asn624=
ENST00000256993.8:c.1872_1876delinsCCTGT	ENSP00000256993.5:p.Asn624=
ENST00000399249.6:c.1872_1876delinsCCTGT	ENSP00000382193.2:p.Asn624=
ENST00000544791.1:c.1872_1876delinsCCTGT	ENSP00000444259.1:p.Asn624=
ENST00000545968.5:c.1872_1876delinsCCTGT	ENSP00000442795.1:p.Asn624=
NM_000256.3:c.1872_1876delinsCCTGT , LRG_386t1:c.1872_1876delinsCCTGT MANE Select	NP_000247.2:p.Asn624=
XM_011520117.1:c.1854_1858delinsCCTGT	XP_011518419.1:p.Asn618=
XM_011520118.1:c.1872_1876delinsCCTGT	XP_011518420.1:p.Asn624=