Canonical Allele Identifier: CA16042829
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372858
ClinVar RCV Id: RCV000414101
dbSNP Id: rs1057518030

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337773del , CM000673.2:g.47337773del GRCh38
NC_000011.9:g.47359324del , CM000673.1:g.47359324del GRCh37
NC_000011.8:g.47315900del NCBI36
NG_007667.1:g.19934del , LRG_386:g.19934del

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.2334del , LRG_386t1:c.2334del NP_000247.2:p.Lys779ArgfsTer?
XM_011520117.1:c.2316del XP_011518419.1:p.Lys773ArgfsTer?
XM_011520118.1:c.2253del XP_011518420.1:p.Lys752ArgfsTer?
ENST00000256993.8:c.2334del ENSP00000256993.5:p.Lys779ArgfsTer?
ENST00000399249.6:c.2334del ENSP00000382193.2:p.Lys779ArgfsTer?
ENST00000544791.1:c.2334del ENSP00000444259.1:p.Lys779ArgfsTer?
ENST00000545968.5:c.2334del ENSP00000442795.1:p.Lys779ArgfsTer?