Canonical Allele Identifier: CA2580084224

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1729638
• ClinVar RCV Id: RCV002445716

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333244_47333251delinsGTGTACCCCCAGAGT , CM000673.2:g.47333244_47333251delinsGTGTACCCCCAGAGT	GRCh38
NC_000011.9:g.47354795_47354802delinsGTGTACCCCCAGAGT , CM000673.1:g.47354795_47354802delinsGTGTACCCCCAGAGT	GRCh37
NC_000011.8:g.47311371_47311378delinsGTGTACCCCCAGAGT	NCBI36
NG_007667.1:g.24452_24459delinsACTCTGGGGGTACAC , LRG_386:g.24452_24459delinsACTCTGGGGGTACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3273_3280delinsACTCTGGGGGTACAC MANE Select	ENSP00000442795.1:p.Asp1091GlufsTer?
ENST00000256993.8:c.3273_3280delinsACTCTGGGGGTACAC	ENSP00000256993.5:p.Asp1091GlufsTer?
ENST00000399249.6:c.3273_3280delinsACTCTGGGGGTACAC	ENSP00000382193.2:p.Asp1091GlufsTer?
ENST00000545968.5:c.3273_3280delinsACTCTGGGGGTACAC	ENSP00000442795.1:p.Asp1091GlufsTer?
NM_000256.3:c.3273_3280delinsACTCTGGGGGTACAC , LRG_386t1:c.3273_3280delinsACTCTGGGGGTACAC MANE Select	NP_000247.2:p.Asp1091GlufsTer?
XM_011520117.1:c.3255_3262delinsACTCTGGGGGTACAC	XP_011518419.1:p.Asp1085GlufsTer?
XM_011520118.1:c.3192_3199delinsACTCTGGGGGTACAC	XP_011518420.1:p.Asp1064GlufsTer?