Canonical Allele Identifier: CA676994071

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1327610051
• MyVariant Identifiers: chr11:g.47372961_47372962insCACCTTCACTCCTGCCCGCT (hg19) ; chr11:g.47351410_47351411insCACCTTCACTCCTGCCCGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351412_47351431dup , CM000673.2:g.47351412_47351431dup	GRCh38
NC_000011.9:g.47372963_47372982dup , CM000673.1:g.47372963_47372982dup	GRCh37
NC_000011.8:g.47329539_47329558dup	NCBI36
NG_007667.1:g.6273_6292dup , LRG_386:g.6273_6292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.101_120dup MANE Select	ENSP00000442795.1:p.Arg41SerfsTer5
ENST00000256993.8:c.101_120dup	ENSP00000256993.5:p.Arg41SerfsTer5
ENST00000399249.6:c.101_120dup	ENSP00000382193.2:p.Arg41SerfsTer5
ENST00000544791.1:c.101_120dup	ENSP00000444259.1:p.Arg41SerfsTer5
ENST00000545968.5:c.101_120dup	ENSP00000442795.1:p.Arg41SerfsTer5
NM_000256.3:c.101_120dup , LRG_386t1:c.101_120dup MANE Select	NP_000247.2:p.Arg41SerfsTer5
XM_011520117.1:c.101_120dup	XP_011518419.1:p.Arg41SerfsTer5
XM_011520118.1:c.101_120dup	XP_011518420.1:p.Arg41SerfsTer5