Canonical Allele Identifier: CA677014586

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1224655916
• MyVariant Identifiers: chr11:g.47354651_47354652insG (hg19) ; chr11:g.47333100_47333101insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333104dup , CM000673.2:g.47333104dup	GRCh38
NC_000011.9:g.47354655dup , CM000673.1:g.47354655dup	GRCh37
NC_000011.8:g.47311231dup	NCBI36
NG_007667.1:g.24602dup , LRG_386:g.24602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3330+93dup MANE Select	ENSP00000442795.1:n.3330+93dup
ENST00000256993.8:c.3330+93dup	ENSP00000256993.5:n.3330+93dup
ENST00000399249.6:c.3330+93dup	ENSP00000382193.2:n.3330+93dup
ENST00000545968.5:c.3330+93dup	ENSP00000442795.1:n.3330+93dup
NM_000256.3:c.3330+93dup , LRG_386t1:c.3330+93dup MANE Select	NP_000247.2:n.3330+93dup
XM_011520117.1:c.3312+93dup	XP_011518419.1:n.3312+93dup
XM_011520118.1:c.3249+93dup	XP_011518420.1:n.3249+93dup