Canonical Allele Identifier: CA645294065

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332094_47332104delinsCAGG , CM000673.2:g.47332094_47332104delinsCAGG	GRCh38
NC_000011.9:g.47353645_47353655delinsCAGG , CM000673.1:g.47353645_47353655delinsCAGG	GRCh37
NC_000011.8:g.47310221_47310231delinsCAGG	NCBI36
NG_007667.1:g.25599_25609delinsCCTG , LRG_386:g.25599_25609delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
NM_000256.3:c.3782_3792delinsCCTG , LRG_386t1:c.3782_3792delinsCCTG MANE Select	NP_000247.2:p.Glu1261AlafsTer?
ENST00000545968.6:c.3782_3792delinsCCTG MANE Select	ENSP00000442795.1:p.Glu1261AlafsTer?
ENST00000256993.8:c.3782_3792delinsCCTG	ENSP00000256993.5:p.Glu1261AlafsTer?
ENST00000399249.6:c.3782_3792delinsCCTG	ENSP00000382193.2:p.Glu1261AlafsTer?
ENST00000545968.5:c.3782_3792delinsCCTG	ENSP00000442795.1:p.Glu1261AlafsTer?
XM_011520117.1:c.3764_3774delinsCCTG	XP_011518419.1:p.Glu1255AlafsTer?
XM_011520118.1:c.3701_3711delinsCCTG	XP_011518420.1:p.Glu1234AlafsTer?