Canonical Allele Identifier: CA296434

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181100
• ClinVar RCV Id: RCV000158400 ; RCV000768479 ; RCV002321664 ; RCV003531994
• dbSNP Id: rs730880672
• MyVariant Identifiers: chr11:g.47354754dupC (hg19) ; chr11:g.47354753_47354754insC (hg19) ; chr11:g.47333203dupC (hg38) ; chr11:g.47333202_47333203insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333203dup , CM000673.2:g.47333203dup	GRCh38
NC_000011.9:g.47354754dup , CM000673.1:g.47354754dup	GRCh37
NC_000011.8:g.47311330dup	NCBI36
NG_007667.1:g.24500dup , LRG_386:g.24500dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3321dup MANE Select	ENSP00000442795.1:p.Lys1108GlufsTer?
ENST00000256993.8:c.3321dup	ENSP00000256993.5:p.Lys1108GlufsTer?
ENST00000399249.6:c.3321dup	ENSP00000382193.2:p.Lys1108GlufsTer?
ENST00000545968.5:c.3321dup	ENSP00000442795.1:p.Lys1108GlufsTer?
NM_000256.3:c.3321dup , LRG_386t1:c.3321dup MANE Select	NP_000247.2:p.Lys1108GlufsTer?
XM_011520117.1:c.3303dup	XP_011518419.1:p.Lys1102GlufsTer?
XM_011520118.1:c.3240dup	XP_011518420.1:p.Lys1081GlufsTer?