Canonical Allele Identifier: CA2580084175

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332172_47332173del , CM000673.2:g.47332172_47332173del	GRCh38
NC_000011.9:g.47353723_47353724del , CM000673.1:g.47353723_47353724del	GRCh37
NC_000011.8:g.47310299_47310300del	NCBI36
NG_007667.1:g.25530_25531del , LRG_386:g.25530_25531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3713_3714del MANE Select	ENSP00000442795.1:p.Leu1238ArgfsTer3
ENST00000256993.8:c.3713_3714del	ENSP00000256993.5:p.Leu1238ArgfsTer3
ENST00000399249.6:c.3713_3714del	ENSP00000382193.2:p.Leu1238ArgfsTer3
ENST00000545968.5:c.3713_3714del	ENSP00000442795.1:p.Leu1238ArgfsTer3
NM_000256.3:c.3713_3714del , LRG_386t1:c.3713_3714del MANE Select	NP_000247.2:p.Leu1238ArgfsTer3
XM_011520117.1:c.3695_3696del	XP_011518419.1:p.Leu1232ArgfsTer3
XM_011520118.1:c.3632_3633del	XP_011518420.1:p.Leu1211ArgfsTer3