Canonical Allele Identifier: CA2695212753

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337449del , CM000673.2:g.47337449del	GRCh38
NC_000011.9:g.47359000del , CM000673.1:g.47359000del	GRCh37
NC_000011.8:g.47315576del	NCBI36
NG_007667.1:g.20255del , LRG_386:g.20255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2545del MANE Select	ENSP00000442795.1:p.Val849SerfsTer30
ENST00000256993.8:c.2545del	ENSP00000256993.5:p.Val849SerfsTer30
ENST00000399249.6:c.2545del	ENSP00000382193.2:p.Val849SerfsTer30
ENST00000544791.1:c.*50del	ENSP00000444259.1:n.*50del
ENST00000545968.5:c.2545del	ENSP00000442795.1:p.Val849SerfsTer30
NM_000256.3:c.2545del , LRG_386t1:c.2545del MANE Select	NP_000247.2:p.Val849SerfsTer30
XM_011520117.1:c.2527del	XP_011518419.1:p.Val843SerfsTer30
XM_011520118.1:c.2464del	XP_011518420.1:p.Val822SerfsTer30