Canonical Allele Identifier: CA221697319

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1003780953
• gnomAD v4: 11-47343319-CAAAAG-C
• MyVariant Identifiers: chr11:g.47364871_47364875del (hg19) ; chr11:g.47343320_47343324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343320_47343324del , CM000673.2:g.47343320_47343324del	GRCh38
NC_000011.9:g.47364871_47364875del , CM000673.1:g.47364871_47364875del	GRCh37
NC_000011.8:g.47321447_47321451del	NCBI36
NG_007667.1:g.14379_14383del , LRG_386:g.14379_14383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-62_1224-58del MANE Select	ENSP00000442795.1:n.1224-62_1224-58del
ENST00000256993.8:c.1223+168_1224-172del	ENSP00000256993.5:n.1223+168_1224-172del
ENST00000399249.6:c.1224-62_1224-58del	ENSP00000382193.2:n.1224-62_1224-58del
ENST00000544791.1:c.1224-62_1224-58del	ENSP00000444259.1:n.1224-62_1224-58del
ENST00000545968.5:c.1224-62_1224-58del	ENSP00000442795.1:n.1224-62_1224-58del
NM_000256.3:c.1224-62_1224-58del , LRG_386t1:c.1224-62_1224-58del MANE Select	NP_000247.2:n.1224-62_1224-58del
XM_011520117.1:c.1206-62_1206-58del	XP_011518419.1:n.1206-62_1206-58del
XM_011520118.1:c.1224-62_1224-58del	XP_011518420.1:n.1224-62_1224-58del