Canonical Allele Identifier: CA645372896

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 432903
• ClinVar RCV Id: RCV000497852
• dbSNP Id: rs1555121924

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341205_47341212delinsT , CM000673.2:g.47341205_47341212delinsT	GRCh38
NC_000011.9:g.47362756_47362763delinsT , CM000673.1:g.47362756_47362763delinsT	GRCh37
NC_000011.8:g.47319332_47319339delinsT	NCBI36
NG_007667.1:g.16491_16498delinsA , LRG_386:g.16491_16498delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1823_1830delinsA MANE Select	ENSP00000442795.1:p.Pro608GlnfsTer?
ENST00000256993.8:c.1823_1830delinsA	ENSP00000256993.5:p.Pro608GlnfsTer?
ENST00000399249.6:c.1823_1830delinsA	ENSP00000382193.2:p.Pro608GlnfsTer?
ENST00000544791.1:c.1823_1830delinsA	ENSP00000444259.1:p.Pro608GlnfsTer?
ENST00000545968.5:c.1823_1830delinsA	ENSP00000442795.1:p.Pro608GlnfsTer?
NM_000256.3:c.1823_1830delinsA , LRG_386t1:c.1823_1830delinsA MANE Select	NP_000247.2:p.Pro608GlnfsTer?
XM_011520117.1:c.1805_1812delinsA	XP_011518419.1:p.Pro602GlnfsTer?
XM_011520118.1:c.1823_1830delinsA	XP_011518420.1:p.Pro608GlnfsTer?