Canonical Allele Identifier: CA937656221

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343662-CGCACCCTGCT-C
• gnomAD v4: 11-47343662-CGCACCCTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343663_47343672del , CM000673.2:g.47343663_47343672del	GRCh38
NC_000011.9:g.47365214_47365223del , CM000673.1:g.47365214_47365223del	GRCh37
NC_000011.8:g.47321790_47321799del	NCBI36
NG_007667.1:g.14031_14040del , LRG_386:g.14031_14040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1091-48_1091-39del MANE Select	ENSP00000442795.1:n.1091-48_1091-39del
ENST00000256993.8:c.1091-48_1091-39del	ENSP00000256993.5:n.1091-48_1091-39del
ENST00000399249.6:c.1091-48_1091-39del	ENSP00000382193.2:n.1091-48_1091-39del
ENST00000544791.1:c.1091-48_1091-39del	ENSP00000444259.1:n.1091-48_1091-39del
ENST00000545968.5:c.1091-48_1091-39del	ENSP00000442795.1:n.1091-48_1091-39del
NM_000256.3:c.1091-48_1091-39del , LRG_386t1:c.1091-48_1091-39del MANE Select	NP_000247.2:n.1091-48_1091-39del
XM_011520117.1:c.1073-48_1073-39del	XP_011518419.1:n.1073-48_1073-39del
XM_011520118.1:c.1091-48_1091-39del	XP_011518420.1:n.1091-48_1091-39del