Canonical Allele Identifier: CA1139661948

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 920646
• ClinVar RCV Id: RCV003586277
• dbSNP Id: rs2095900581

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351271_47351281del , CM000673.2:g.47351271_47351281del	GRCh38
NC_000011.9:g.47372822_47372832del , CM000673.1:g.47372822_47372832del	GRCh37
NC_000011.8:g.47329398_47329408del	NCBI36
NG_007667.1:g.6424_6434del , LRG_386:g.6424_6434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.252_262del MANE Select	ENSP00000442795.1:p.Ser85GlnfsTer24
ENST00000256993.8:c.252_262del	ENSP00000256993.5:p.Ser85GlnfsTer24
ENST00000399249.6:c.252_262del	ENSP00000382193.2:p.Ser85GlnfsTer24
ENST00000544791.1:c.252_262del	ENSP00000444259.1:p.Ser85GlnfsTer24
ENST00000545968.5:c.252_262del	ENSP00000442795.1:p.Ser85GlnfsTer24
NM_000256.3:c.252_262del , LRG_386t1:c.252_262del MANE Select	NP_000247.2:p.Ser85GlnfsTer24
XM_011520117.1:c.252_262del	XP_011518419.1:p.Ser85GlnfsTer24
XM_011520118.1:c.252_262del	XP_011518420.1:p.Ser85GlnfsTer24