Canonical Allele Identifier: CA013018
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42660
dbSNP Id: rs397515987

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335114_47335115del , CM000673.2:g.47335114_47335115del GRCh38
NC_000011.9:g.47356665_47356666del , CM000673.1:g.47356665_47356666del GRCh37
NC_000011.8:g.47313241_47313242del NCBI36
NG_007667.1:g.22589_22590del , LRG_386:g.22589_22590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2833_2834del MANE Select ENSP00000442795.1:p.Arg945GlyfsTer?
ENST00000256993.8:c.2833_2834del ENSP00000256993.5:p.Arg945GlyfsTer?
ENST00000399249.6:c.2833_2834del ENSP00000382193.2:p.Arg945GlyfsTer?
ENST00000545968.5:c.2833_2834del ENSP00000442795.1:p.Arg945GlyfsTer?
NM_000256.3:c.2833_2834del , LRG_386t1:c.2833_2834del MANE Select NP_000247.2:p.Arg945GlyfsTer?
XM_011520117.1:c.2815_2816del XP_011518419.1:p.Arg939GlyfsTer?
XM_011520118.1:c.2752_2753del XP_011518420.1:p.Arg918GlyfsTer?