Canonical Allele Identifier: CA1969339887

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337449_47337450delinsCG , CM000673.2:g.47337449_47337450delinsCG	GRCh38
NC_000011.9:g.47359000_47359001delinsCG , CM000673.1:g.47359000_47359001delinsCG	GRCh37
NC_000011.8:g.47315576_47315577delinsCG	NCBI36
NG_007667.1:g.20253_20254delinsCG , LRG_386:g.20253_20254delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2543_2544delinsCG MANE Select	ENSP00000442795.1:p.Ala848=
ENST00000256993.8:c.2543_2544delinsCG	ENSP00000256993.5:p.Ala848=
ENST00000399249.6:c.2543_2544delinsCG	ENSP00000382193.2:p.Ala848=
ENST00000544791.1:c.*48_*49delinsCG	ENSP00000444259.1:n.*48_*49delinsCG
ENST00000545968.5:c.2543_2544delinsCG	ENSP00000442795.1:p.Ala848=
NM_000256.3:c.2543_2544delinsCG , LRG_386t1:c.2543_2544delinsCG MANE Select	NP_000247.2:p.Ala848=
XM_011520117.1:c.2525_2526delinsCG	XP_011518419.1:p.Ala842=
XM_011520118.1:c.2462_2463delinsCG	XP_011518420.1:p.Ala821=