Canonical Allele Identifier: CA2613393325

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47333226-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333231del , CM000673.2:g.47333231del	GRCh38
NC_000011.9:g.47354782del , CM000673.1:g.47354782del	GRCh37
NC_000011.8:g.47311358del	NCBI36
NG_007667.1:g.24476del , LRG_386:g.24476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3297del MANE Select	ENSP00000442795.1:p.Tyr1100ThrfsTer?
ENST00000256993.8:c.3297del	ENSP00000256993.5:p.Tyr1100ThrfsTer?
ENST00000399249.6:c.3297del	ENSP00000382193.2:p.Tyr1100ThrfsTer?
ENST00000545968.5:c.3297del	ENSP00000442795.1:p.Tyr1100ThrfsTer?
NM_000256.3:c.3297del , LRG_386t1:c.3297del MANE Select	NP_000247.2:p.Tyr1100ThrfsTer?
XM_011520117.1:c.3279del	XP_011518419.1:p.Tyr1094ThrfsTer?
XM_011520118.1:c.3216del	XP_011518420.1:p.Tyr1073ThrfsTer?