Canonical Allele Identifier: CA2573332630

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2095824
• ClinVar RCV Id: RCV003012533

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341246del , CM000673.2:g.47341246del	GRCh38
NC_000011.9:g.47362797del , CM000673.1:g.47362797del	GRCh37
NC_000011.8:g.47319373del	NCBI36
NG_007667.1:g.16457del , LRG_386:g.16457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1791-2del MANE Select	ENSP00000442795.1:n.1791-2del
ENST00000256993.8:c.1791-2del	ENSP00000256993.5:n.1791-2del
ENST00000399249.6:c.1791-2del	ENSP00000382193.2:n.1791-2del
ENST00000544791.1:c.1791-2del	ENSP00000444259.1:n.1791-2del
ENST00000545968.5:c.1791-2del	ENSP00000442795.1:n.1791-2del
NM_000256.3:c.1791-2del , LRG_386t1:c.1791-2del MANE Select	NP_000247.2:n.1791-2del
XM_011520117.1:c.1773-2del	XP_011518419.1:n.1773-2del
XM_011520118.1:c.1791-2del	XP_011518420.1:n.1791-2del