Canonical Allele Identifier: CA2580084284

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2137074
• ClinVar RCV Id: RCV003058307

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337443_47337448delinsATGA , CM000673.2:g.47337443_47337448delinsATGA	GRCh38
NC_000011.9:g.47358994_47358999delinsATGA , CM000673.1:g.47358994_47358999delinsATGA	GRCh37
NC_000011.8:g.47315570_47315575delinsATGA	NCBI36
NG_007667.1:g.20255_20260delinsTCAT , LRG_386:g.20255_20260delinsTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2545_2550delinsTCAT MANE Select	ENSP00000442795.1:p.Val849SerfsTer?
ENST00000256993.8:c.2545_2550delinsTCAT	ENSP00000256993.5:p.Val849SerfsTer?
ENST00000399249.6:c.2545_2550delinsTCAT	ENSP00000382193.2:p.Val849SerfsTer?
ENST00000544791.1:c.*50_*55delinsTCAT	ENSP00000444259.1:n.*50_*55delinsTCAT
ENST00000545968.5:c.2545_2550delinsTCAT	ENSP00000442795.1:p.Val849SerfsTer?
NM_000256.3:c.2545_2550delinsTCAT , LRG_386t1:c.2545_2550delinsTCAT MANE Select	NP_000247.2:p.Val849SerfsTer?
XM_011520117.1:c.2527_2532delinsTCAT	XP_011518419.1:p.Val843SerfsTer?
XM_011520118.1:c.2464_2469delinsTCAT	XP_011518420.1:p.Val822SerfsTer?