Canonical Allele Identifier: CA2613406962

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343510-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343512del , CM000673.2:g.47343512del	GRCh38
NC_000011.9:g.47365063del , CM000673.1:g.47365063del	GRCh37
NC_000011.8:g.47321639del	NCBI36
NG_007667.1:g.14192del , LRG_386:g.14192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1204del MANE Select	ENSP00000442795.1:p.Glu402ArgfsTer4
ENST00000256993.8:c.1204del	ENSP00000256993.5:p.Glu402ArgfsTer4
ENST00000399249.6:c.1204del	ENSP00000382193.2:p.Glu402ArgfsTer4
ENST00000544791.1:c.1204del	ENSP00000444259.1:p.Glu402ArgfsTer4
ENST00000545968.5:c.1204del	ENSP00000442795.1:p.Glu402ArgfsTer4
NM_000256.3:c.1204del , LRG_386t1:c.1204del MANE Select	NP_000247.2:p.Glu402ArgfsTer4
XM_011520117.1:c.1186del	XP_011518419.1:p.Glu396ArgfsTer4
XM_011520118.1:c.1204del	XP_011518420.1:p.Glu402ArgfsTer4