Canonical Allele Identifier: CA2596115440

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343687-TACTGTG-T
• gnomAD v4: 11-47343687-TACTGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343688_47343693del , CM000673.2:g.47343688_47343693del	GRCh38
NC_000011.9:g.47365239_47365244del , CM000673.1:g.47365239_47365244del	GRCh37
NC_000011.8:g.47321815_47321820del	NCBI36
NG_007667.1:g.14010_14015del , LRG_386:g.14010_14015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1091-69_1091-64del MANE Select	ENSP00000442795.1:n.1091-69_1091-64del
ENST00000256993.8:c.1091-69_1091-64del	ENSP00000256993.5:n.1091-69_1091-64del
ENST00000399249.6:c.1091-69_1091-64del	ENSP00000382193.2:n.1091-69_1091-64del
ENST00000544791.1:c.1091-69_1091-64del	ENSP00000444259.1:n.1091-69_1091-64del
ENST00000545968.5:c.1091-69_1091-64del	ENSP00000442795.1:n.1091-69_1091-64del
NM_000256.3:c.1091-69_1091-64del , LRG_386t1:c.1091-69_1091-64del MANE Select	NP_000247.2:n.1091-69_1091-64del
XM_011520117.1:c.1073-69_1073-64del	XP_011518419.1:n.1073-69_1073-64del
XM_011520118.1:c.1091-69_1091-64del	XP_011518420.1:n.1091-69_1091-64del