Canonical Allele Identifier: CA2613402375

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351369-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351371del , CM000673.2:g.47351371del	GRCh38
NC_000011.9:g.47372922del , CM000673.1:g.47372922del	GRCh37
NC_000011.8:g.47329498del	NCBI36
NG_007667.1:g.6333del , LRG_386:g.6333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.161del MANE Select	ENSP00000442795.1:p.Lys54SerfsTer13
ENST00000256993.8:c.161del	ENSP00000256993.5:p.Lys54SerfsTer13
ENST00000399249.6:c.161del	ENSP00000382193.2:p.Lys54SerfsTer13
ENST00000544791.1:c.161del	ENSP00000444259.1:p.Lys54SerfsTer13
ENST00000545968.5:c.161del	ENSP00000442795.1:p.Lys54SerfsTer13
NM_000256.3:c.161del , LRG_386t1:c.161del MANE Select	NP_000247.2:p.Lys54SerfsTer13
XM_011520117.1:c.161del	XP_011518419.1:p.Lys54SerfsTer13
XM_011520118.1:c.161del	XP_011518420.1:p.Lys54SerfsTer13