Canonical Allele Identifier: CA937656263

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343676-CCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGT-C
• gnomAD v4: 11-47343676-CCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343678_47343714del , CM000673.2:g.47343678_47343714del	GRCh38
NC_000011.9:g.47365229_47365265del , CM000673.1:g.47365229_47365265del	GRCh37
NC_000011.8:g.47321805_47321841del	NCBI36
NG_007667.1:g.13990_14026del , LRG_386:g.13990_14026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1091-89_1091-53del MANE Select	ENSP00000442795.1:n.1091-89_1091-53del
ENST00000256993.8:c.1091-89_1091-53del	ENSP00000256993.5:n.1091-89_1091-53del
ENST00000399249.6:c.1091-89_1091-53del	ENSP00000382193.2:n.1091-89_1091-53del
ENST00000544791.1:c.1091-89_1091-53del	ENSP00000444259.1:n.1091-89_1091-53del
ENST00000545968.5:c.1091-89_1091-53del	ENSP00000442795.1:n.1091-89_1091-53del
NM_000256.3:c.1091-89_1091-53del , LRG_386t1:c.1091-89_1091-53del MANE Select	NP_000247.2:n.1091-89_1091-53del
XM_011520117.1:c.1073-89_1073-53del	XP_011518419.1:n.1073-89_1073-53del
XM_011520118.1:c.1091-89_1091-53del	XP_011518420.1:n.1091-89_1091-53del