Canonical Allele Identifier: CA2613398201

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341160-CAGGTTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341161_47341168del , CM000673.2:g.47341161_47341168del	GRCh38
NC_000011.9:g.47362712_47362719del , CM000673.1:g.47362712_47362719del	GRCh37
NC_000011.8:g.47319288_47319295del	NCBI36
NG_007667.1:g.16535_16542del , LRG_386:g.16535_16542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1867_1874del MANE Select	ENSP00000442795.1:p.Cys623ValfsTer12
ENST00000256993.8:c.1867_1874del	ENSP00000256993.5:p.Cys623ValfsTer12
ENST00000399249.6:c.1867_1874del	ENSP00000382193.2:p.Cys623ValfsTer12
ENST00000544791.1:c.1867_1874del	ENSP00000444259.1:p.Cys623ValfsTer12
ENST00000545968.5:c.1867_1874del	ENSP00000442795.1:p.Cys623ValfsTer12
NM_000256.3:c.1867_1874del , LRG_386t1:c.1867_1874del MANE Select	NP_000247.2:p.Cys623ValfsTer12
XM_011520117.1:c.1849_1856del	XP_011518419.1:p.Cys617ValfsTer12
XM_011520118.1:c.1867_1874del	XP_011518420.1:p.Cys623ValfsTer12