Canonical Allele Identifier: CA2695212755

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2691204
• ClinVar RCV Id: RCV003487237

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337451del , CM000673.2:g.47337451del	GRCh38
NC_000011.9:g.47359002del , CM000673.1:g.47359002del	GRCh37
NC_000011.8:g.47315578del	NCBI36
NG_007667.1:g.20252del , LRG_386:g.20252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2542del MANE Select	ENSP00000442795.1:p.Ala848ArgfsTer?
ENST00000256993.8:c.2542del	ENSP00000256993.5:p.Ala848ArgfsTer?
ENST00000399249.6:c.2542del	ENSP00000382193.2:p.Ala848ArgfsTer?
ENST00000544791.1:c.*47del	ENSP00000444259.1:n.*47del
ENST00000545968.5:c.2542del	ENSP00000442795.1:p.Ala848ArgfsTer?
NM_000256.3:c.2542del , LRG_386t1:c.2542del MANE Select	NP_000247.2:p.Ala848ArgfsTer?
XM_011520117.1:c.2524del	XP_011518419.1:p.Ala842ArgfsTer?
XM_011520118.1:c.2461del	XP_011518420.1:p.Ala821ArgfsTer?