Canonical Allele Identifier: CA2613398265

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341168-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341170del , CM000673.2:g.47341170del	GRCh38
NC_000011.9:g.47362721del , CM000673.1:g.47362721del	GRCh37
NC_000011.8:g.47319297del	NCBI36
NG_007667.1:g.16534del , LRG_386:g.16534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1866del MANE Select	ENSP00000442795.1:p.Cys623AlafsTer?
ENST00000256993.8:c.1866del	ENSP00000256993.5:p.Cys623AlafsTer?
ENST00000399249.6:c.1866del	ENSP00000382193.2:p.Cys623AlafsTer?
ENST00000544791.1:c.1866del	ENSP00000444259.1:p.Cys623AlafsTer?
ENST00000545968.5:c.1866del	ENSP00000442795.1:p.Cys623AlafsTer?
NM_000256.3:c.1866del , LRG_386t1:c.1866del MANE Select	NP_000247.2:p.Cys623AlafsTer?
XM_011520117.1:c.1848del	XP_011518419.1:p.Cys617AlafsTer?
XM_011520118.1:c.1866del	XP_011518420.1:p.Cys623AlafsTer?