Canonical Allele Identifier: CA011160

Gene: MYBPC3

Linked Data

• dbSNP Id: rs786204324
• MyVariant Identifiers: chr11:g.47372902_47372903del (hg19) ; chr11:g.47351351_47351352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351353_47351354del , CM000673.2:g.47351353_47351354del	GRCh38
NC_000011.9:g.47372904_47372905del , CM000673.1:g.47372904_47372905del	GRCh37
NC_000011.8:g.47329480_47329481del	NCBI36
NG_007667.1:g.6351_6352del , LRG_386:g.6351_6352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.179_180del MANE Select	ENSP00000442795.1:p.Glu60GlyfsTer?
ENST00000256993.8:c.179_180del	ENSP00000256993.5:p.Glu60GlyfsTer?
ENST00000399249.6:c.179_180del	ENSP00000382193.2:p.Glu60GlyfsTer?
ENST00000544791.1:c.179_180del	ENSP00000444259.1:p.Glu60GlyfsTer?
ENST00000545968.5:c.179_180del	ENSP00000442795.1:p.Glu60GlyfsTer?
NM_000256.3:c.179_180del , LRG_386t1:c.179_180del MANE Select	NP_000247.2:p.Glu60GlyfsTer?
XM_011520117.1:c.179_180del	XP_011518419.1:p.Glu60GlyfsTer?
XM_011520118.1:c.179_180del	XP_011518420.1:p.Glu60GlyfsTer?