Canonical Allele Identifier: CA16619339
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419099
ClinVar RCV Id: RCV000482156
dbSNP Id: rs1064793642

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339660del , CM000673.2:g.47339660del GRCh38
NC_000011.9:g.47361211del , CM000673.1:g.47361211del GRCh37
NC_000011.8:g.47317787del NCBI36
NG_007667.1:g.18043del , LRG_386:g.18043del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2058del MANE Select ENSP00000442795.1:p.Ile687SerfsTer?
ENST00000256993.8:c.2058del ENSP00000256993.5:p.Ile687SerfsTer?
ENST00000399249.6:c.2058del ENSP00000382193.2:p.Ile687SerfsTer?
ENST00000544791.1:c.2058del ENSP00000444259.1:p.Ile687SerfsTer?
ENST00000545968.5:c.2058del ENSP00000442795.1:p.Ile687SerfsTer?
NM_000256.3:c.2058del , LRG_386t1:c.2058del MANE Select NP_000247.2:p.Ile687SerfsTer?
XM_011520117.1:c.2040del XP_011518419.1:p.Ile681SerfsTer?
XM_011520118.1:c.2058del XP_011518420.1:p.Ile687SerfsTer?