Canonical Allele Identifier: CA2613398190

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341159-ACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341160_47341162del , CM000673.2:g.47341160_47341162del	GRCh38
NC_000011.9:g.47362711_47362713del , CM000673.1:g.47362711_47362713del	GRCh37
NC_000011.8:g.47319287_47319289del	NCBI36
NG_007667.1:g.16541_16543del , LRG_386:g.16541_16543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1873_1875del MANE Select	ENSP00000442795.1:p.Leu625del
ENST00000256993.8:c.1873_1875del	ENSP00000256993.5:p.Leu625del
ENST00000399249.6:c.1873_1875del	ENSP00000382193.2:p.Leu625del
ENST00000544791.1:c.1873_1875del	ENSP00000444259.1:p.Leu625del
ENST00000545968.5:c.1873_1875del	ENSP00000442795.1:p.Leu625del
NM_000256.3:c.1873_1875del , LRG_386t1:c.1873_1875del MANE Select	NP_000247.2:p.Leu625del
XM_011520117.1:c.1855_1857del	XP_011518419.1:p.Leu619del
XM_011520118.1:c.1873_1875del	XP_011518420.1:p.Leu625del