Canonical Allele Identifier: CA1969333223

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332090_47332092delinsACT , CM000673.2:g.47332090_47332092delinsACT	GRCh38
NC_000011.9:g.47353641_47353643delinsACT , CM000673.1:g.47353641_47353643delinsACT	GRCh37
NC_000011.8:g.47310217_47310219delinsACT	NCBI36
NG_007667.1:g.25611_25613delinsAGT , LRG_386:g.25611_25613delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3794_3796delinsAGT MANE Select	ENSP00000442795.1:p.Glu1265=
ENST00000256993.8:c.3794_3796delinsAGT	ENSP00000256993.5:p.Glu1265=
ENST00000399249.6:c.3794_3796delinsAGT	ENSP00000382193.2:p.Glu1265=
ENST00000545968.5:c.3794_3796delinsAGT	ENSP00000442795.1:p.Glu1265=
NM_000256.3:c.3794_3796delinsAGT , LRG_386t1:c.3794_3796delinsAGT MANE Select	NP_000247.2:p.Glu1265=
XM_011520117.1:c.3776_3778delinsAGT	XP_011518419.1:p.Glu1259=
XM_011520118.1:c.3713_3715delinsAGT	XP_011518420.1:p.Glu1238=