Canonical Allele Identifier: CA937657086

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47346135-ATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTG-A
• gnomAD v4: 11-47346135-ATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346151_47346187del , CM000673.2:g.47346151_47346187del	GRCh38
NC_000011.9:g.47367702_47367738del , CM000673.1:g.47367702_47367738del	GRCh37
NC_000011.8:g.47324278_47324314del	NCBI36
NG_007667.1:g.11531_11567del , LRG_386:g.11531_11567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1090+35_1090+71del MANE Select	ENSP00000442795.1:n.1090+35_1090+71del
ENST00000256993.8:c.1090+35_1090+71del	ENSP00000256993.5:n.1090+35_1090+71del
ENST00000399249.6:c.1090+35_1090+71del	ENSP00000382193.2:n.1090+35_1090+71del
ENST00000544791.1:c.1090+35_1090+71del	ENSP00000444259.1:n.1090+35_1090+71del
ENST00000545968.5:c.1090+35_1090+71del	ENSP00000442795.1:n.1090+35_1090+71del
NM_000256.3:c.1090+35_1090+71del , LRG_386t1:c.1090+35_1090+71del MANE Select	NP_000247.2:n.1090+35_1090+71del
XM_011520117.1:c.1072+35_1072+71del	XP_011518419.1:n.1072+35_1072+71del
XM_011520118.1:c.1090+35_1090+71del	XP_011518420.1:n.1090+35_1090+71del