Canonical Allele Identifier: CA937671623

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095890190
• gnomAD v3: 11-47342786-GGCAGAT-G
• gnomAD v4: 11-47342786-GGCAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342789_47342794del , CM000673.2:g.47342789_47342794del	GRCh38
NC_000011.9:g.47364340_47364345del , CM000673.1:g.47364340_47364345del	GRCh37
NC_000011.8:g.47320916_47320921del	NCBI36
NG_007667.1:g.14911_14916del , LRG_386:g.14911_14916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1457+38_1458-43del MANE Select	ENSP00000442795.1:n.1457+38_1458-43del
ENST00000256993.8:c.1457+38_1458-43del	ENSP00000256993.5:n.1457+38_1458-43del
ENST00000399249.6:c.1457+38_1458-43del	ENSP00000382193.2:n.1457+38_1458-43del
ENST00000544791.1:c.1457+38_1458-43del	ENSP00000444259.1:n.1457+38_1458-43del
ENST00000545968.5:c.1457+38_1458-43del	ENSP00000442795.1:n.1457+38_1458-43del
NM_000256.3:c.1457+38_1458-43del , LRG_386t1:c.1457+38_1458-43del MANE Select	NP_000247.2:n.1457+38_1458-43del
XM_011520117.1:c.1439+38_1440-43del	XP_011518419.1:n.1439+38_1440-43del
XM_011520118.1:c.1457+38_1458-43del	XP_011518420.1:n.1457+38_1458-43del