Canonical Allele Identifier: CA2613397863

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47350075-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47350077del , CM000673.2:g.47350077del	GRCh38
NC_000011.9:g.47371628del , CM000673.1:g.47371628del	GRCh37
NC_000011.8:g.47328204del	NCBI36
NG_007667.1:g.7627del , LRG_386:g.7627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.443del MANE Select	ENSP00000442795.1:p.Gly148GlufsTer11
ENST00000256993.8:c.443del	ENSP00000256993.5:p.Gly148GlufsTer11
ENST00000399249.6:c.443del	ENSP00000382193.2:p.Gly148GlufsTer11
ENST00000544791.1:c.443del	ENSP00000444259.1:p.Gly148GlufsTer11
ENST00000545968.5:c.443del	ENSP00000442795.1:p.Gly148GlufsTer11
NM_000256.3:c.443del , LRG_386t1:c.443del MANE Select	NP_000247.2:p.Gly148GlufsTer11
XM_011520117.1:c.443del	XP_011518419.1:p.Gly148GlufsTer11
XM_011520118.1:c.443del	XP_011518420.1:p.Gly148GlufsTer11