Canonical Allele Identifier: CA013350

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181092
• ClinVar RCV Id: RCV000158388
• dbSNP Id: rs730880665
• MyVariant Identifiers: chr11:g.47355268_47355269del (hg19) ; chr11:g.47333717_47333718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333719_47333720del , CM000673.2:g.47333719_47333720del	GRCh38
NC_000011.9:g.47355270_47355271del , CM000673.1:g.47355270_47355271del	GRCh37
NC_000011.8:g.47311846_47311847del	NCBI36
NG_007667.1:g.23985_23986del , LRG_386:g.23985_23986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3029_3030del MANE Select	ENSP00000442795.1:p.Glu1010GlyfsTer?
ENST00000256993.8:c.3029_3030del	ENSP00000256993.5:p.Glu1010GlyfsTer?
ENST00000399249.6:c.3029_3030del	ENSP00000382193.2:p.Glu1010GlyfsTer?
ENST00000545968.5:c.3029_3030del	ENSP00000442795.1:p.Glu1010GlyfsTer?
NM_000256.3:c.3029_3030del , LRG_386t1:c.3029_3030del MANE Select	NP_000247.2:p.Glu1010GlyfsTer?
XM_011520117.1:c.3011_3012del	XP_011518419.1:p.Glu1004GlyfsTer?
XM_011520118.1:c.2948_2949del	XP_011518420.1:p.Glu983GlyfsTer?