Canonical Allele Identifier: CA676993471

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1234246991
• MyVariant Identifiers: chr11:g.47372596_47372602del (hg19) ; chr11:g.47351045_47351051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351045_47351051del , CM000673.2:g.47351045_47351051del	GRCh38
NC_000011.9:g.47372596_47372602del , CM000673.1:g.47372596_47372602del	GRCh37
NC_000011.8:g.47329172_47329178del	NCBI36
NG_007667.1:g.6652_6658del , LRG_386:g.6652_6658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+188_292+194del MANE Select	ENSP00000442795.1:n.292+188_292+194del
ENST00000256993.8:c.292+188_292+194del	ENSP00000256993.5:n.292+188_292+194del
ENST00000399249.6:c.292+188_292+194del	ENSP00000382193.2:n.292+188_292+194del
ENST00000544791.1:c.292+188_292+194del	ENSP00000444259.1:n.292+188_292+194del
ENST00000545968.5:c.292+188_292+194del	ENSP00000442795.1:n.292+188_292+194del
NM_000256.3:c.292+188_292+194del , LRG_386t1:c.292+188_292+194del MANE Select	NP_000247.2:n.292+188_292+194del
XM_011520117.1:c.292+188_292+194del	XP_011518419.1:n.292+188_292+194del
XM_011520118.1:c.292+188_292+194del	XP_011518420.1:n.292+188_292+194del