Canonical Allele Identifier: CA677001286

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1413824801
• gnomAD v4: 11-47343236-C-CA
• MyVariant Identifiers: chr11:g.47364787_47364788insA (hg19) ; chr11:g.47343236_47343237insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343238dup , CM000673.2:g.47343238dup	GRCh38
NC_000011.9:g.47364789dup , CM000673.1:g.47364789dup	GRCh37
NC_000011.8:g.47321365dup	NCBI36
NG_007667.1:g.14466dup , LRG_386:g.14466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1226+23dup MANE Select	ENSP00000442795.1:n.1226+23dup
ENST00000256993.8:c.1224-89dup	ENSP00000256993.5:n.1224-89dup
ENST00000399249.6:c.1226+23dup	ENSP00000382193.2:n.1226+23dup
ENST00000544791.1:c.1226+23dup	ENSP00000444259.1:n.1226+23dup
ENST00000545968.5:c.1226+23dup	ENSP00000442795.1:n.1226+23dup
NM_000256.3:c.1226+23dup , LRG_386t1:c.1226+23dup MANE Select	NP_000247.2:n.1226+23dup
XM_011520117.1:c.1208+23dup	XP_011518419.1:n.1208+23dup
XM_011520118.1:c.1226+23dup	XP_011518420.1:n.1226+23dup