Canonical Allele Identifier: CA1969337186

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343546_47343562delinsTGGTCAGCCAGTTCCAC , CM000673.2:g.47343546_47343562delinsTGGTCAGCCAGTTCCAC	GRCh38
NC_000011.9:g.47365097_47365113delinsTGGTCAGCCAGTTCCAC , CM000673.1:g.47365097_47365113delinsTGGTCAGCCAGTTCCAC	GRCh37
NC_000011.8:g.47321673_47321689delinsTGGTCAGCCAGTTCCAC	NCBI36
NG_007667.1:g.14141_14157delinsGTGGAACTGGCTGACCA , LRG_386:g.14141_14157delinsGTGGAACTGGCTGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1153_1169delinsGTGGAACTGGCTGACCA MANE Select	ENSP00000442795.1:p.Val385=
ENST00000256993.8:c.1153_1169delinsGTGGAACTGGCTGACCA	ENSP00000256993.5:p.Val385=
ENST00000399249.6:c.1153_1169delinsGTGGAACTGGCTGACCA	ENSP00000382193.2:p.Val385=
ENST00000544791.1:c.1153_1169delinsGTGGAACTGGCTGACCA	ENSP00000444259.1:p.Val385=
ENST00000545968.5:c.1153_1169delinsGTGGAACTGGCTGACCA	ENSP00000442795.1:p.Val385=
NM_000256.3:c.1153_1169delinsGTGGAACTGGCTGACCA , LRG_386t1:c.1153_1169delinsGTGGAACTGGCTGACCA MANE Select	NP_000247.2:p.Val385=
XM_011520117.1:c.1135_1151delinsGTGGAACTGGCTGACCA	XP_011518419.1:p.Val379=
XM_011520118.1:c.1153_1169delinsGTGGAACTGGCTGACCA	XP_011518420.1:p.Val385=