Canonical Allele Identifier: CA2596115429

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343462-CCGAG-C
• gnomAD v4: 11-47343462-CCGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343464_47343467del , CM000673.2:g.47343464_47343467del	GRCh38
NC_000011.9:g.47365015_47365018del , CM000673.1:g.47365015_47365018del	GRCh37
NC_000011.8:g.47321591_47321594del	NCBI36
NG_007667.1:g.14237_14240del , LRG_386:g.14237_14240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1223+26_1223+29del MANE Select	ENSP00000442795.1:n.1223+26_1223+29del
ENST00000256993.8:c.1223+26_1223+29del	ENSP00000256993.5:n.1223+26_1223+29del
ENST00000399249.6:c.1223+26_1223+29del	ENSP00000382193.2:n.1223+26_1223+29del
ENST00000544791.1:c.1223+26_1223+29del	ENSP00000444259.1:n.1223+26_1223+29del
ENST00000545968.5:c.1223+26_1223+29del	ENSP00000442795.1:n.1223+26_1223+29del
NM_000256.3:c.1223+26_1223+29del , LRG_386t1:c.1223+26_1223+29del MANE Select	NP_000247.2:n.1223+26_1223+29del
XM_011520117.1:c.1205+26_1205+29del	XP_011518419.1:n.1205+26_1205+29del
XM_011520118.1:c.1223+26_1223+29del	XP_011518420.1:n.1223+26_1223+29del