Canonical Allele Identifier: CA2573051162

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343544del , CM000673.2:g.47343544del	GRCh38
NC_000011.9:g.47365095del , CM000673.1:g.47365095del	GRCh37
NC_000011.8:g.47321671del	NCBI36
NG_007667.1:g.14159del , LRG_386:g.14159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1171del MANE Select	ENSP00000442795.1:p.Asp391ThrfsTer15
ENST00000256993.8:c.1171del	ENSP00000256993.5:p.Asp391ThrfsTer15
ENST00000399249.6:c.1171del	ENSP00000382193.2:p.Asp391ThrfsTer15
ENST00000544791.1:c.1171del	ENSP00000444259.1:p.Asp391ThrfsTer15
ENST00000545968.5:c.1171del	ENSP00000442795.1:p.Asp391ThrfsTer15
NM_000256.3:c.1171del , LRG_386t1:c.1171del MANE Select	NP_000247.2:p.Asp391ThrfsTer15
XM_011520117.1:c.1153del	XP_011518419.1:p.Asp385ThrfsTer15
XM_011520118.1:c.1171del	XP_011518420.1:p.Asp391ThrfsTer15