Canonical Allele Identifier: CA2739270431

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2857095
• ClinVar RCV Id: RCV003747788

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337445_47337453dup , CM000673.2:g.47337445_47337453dup	GRCh38
NC_000011.9:g.47358996_47359004dup , CM000673.1:g.47358996_47359004dup	GRCh37
NC_000011.8:g.47315572_47315580dup	NCBI36
NG_007667.1:g.20254_20262dup , LRG_386:g.20254_20262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2544_2552dup MANE Select	ENSP00000442795.1:p.Ala851_Ile852insValAsnAla
ENST00000256993.8:c.2544_2552dup	ENSP00000256993.5:p.Ala851_Ile852insValAsnAla
ENST00000399249.6:c.2544_2552dup	ENSP00000382193.2:p.Ala851_Ile852insValAsnAla
ENST00000544791.1:c.*49_*57dup	ENSP00000444259.1:n.*49_*57dup
ENST00000545968.5:c.2544_2552dup	ENSP00000442795.1:p.Ala851_Ile852insValAsnAla
NM_000256.3:c.2544_2552dup , LRG_386t1:c.2544_2552dup MANE Select	NP_000247.2:p.Ala851_Ile852insValAsnAla
XM_011520117.1:c.2526_2534dup	XP_011518419.1:p.Ala845_Ile846insValAsnAla
XM_011520118.1:c.2463_2471dup	XP_011518420.1:p.Ala824_Ile825insValAsnAla