Canonical Allele Identifier: CA937655960

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343346-AGGAG-A
• gnomAD v4: 11-47343346-AGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343347_47343350del , CM000673.2:g.47343347_47343350del	GRCh38
NC_000011.9:g.47364898_47364901del , CM000673.1:g.47364898_47364901del	GRCh37
NC_000011.8:g.47321474_47321477del	NCBI36
NG_007667.1:g.14353_14356del , LRG_386:g.14353_14356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-88_1224-85del MANE Select	ENSP00000442795.1:n.1224-88_1224-85del
ENST00000256993.8:c.1223+142_1223+145del	ENSP00000256993.5:n.1223+142_1223+145del
ENST00000399249.6:c.1224-88_1224-85del	ENSP00000382193.2:n.1224-88_1224-85del
ENST00000544791.1:c.1224-88_1224-85del	ENSP00000444259.1:n.1224-88_1224-85del
ENST00000545968.5:c.1224-88_1224-85del	ENSP00000442795.1:n.1224-88_1224-85del
NM_000256.3:c.1224-88_1224-85del , LRG_386t1:c.1224-88_1224-85del MANE Select	NP_000247.2:n.1224-88_1224-85del
XM_011520117.1:c.1206-88_1206-85del	XP_011518419.1:n.1206-88_1206-85del
XM_011520118.1:c.1224-88_1224-85del	XP_011518420.1:n.1224-88_1224-85del