Canonical Allele Identifier: CA2613405442

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343247-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343248dup , CM000673.2:g.47343248dup	GRCh38
NC_000011.9:g.47364799dup , CM000673.1:g.47364799dup	GRCh37
NC_000011.8:g.47321375dup	NCBI36
NG_007667.1:g.14455dup , LRG_386:g.14455dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1226+12dup MANE Select	ENSP00000442795.1:n.1226+12dup
ENST00000256993.8:c.1224-100dup	ENSP00000256993.5:n.1224-100dup
ENST00000399249.6:c.1226+12dup	ENSP00000382193.2:n.1226+12dup
ENST00000544791.1:c.1226+12dup	ENSP00000444259.1:n.1226+12dup
ENST00000545968.5:c.1226+12dup	ENSP00000442795.1:n.1226+12dup
NM_000256.3:c.1226+12dup , LRG_386t1:c.1226+12dup MANE Select	NP_000247.2:n.1226+12dup
XM_011520117.1:c.1208+12dup	XP_011518419.1:n.1208+12dup
XM_011520118.1:c.1226+12dup	XP_011518420.1:n.1226+12dup