Canonical Allele Identifier: CA279311
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217483
ClinVar RCV Id: RCV000201490
dbSNP Id: rs863225111
MyVariant Identifiers: chr11:g.47372855dupT (hg19) chr11:g.47372854_47372855insT (hg19) chr11:g.47351304dupT (hg38) chr11:g.47351303_47351304insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351304dup , CM000673.2:g.47351304dup GRCh38
NC_000011.9:g.47372855dup , CM000673.1:g.47372855dup GRCh37
NC_000011.8:g.47329431dup NCBI36
NG_007667.1:g.6399dup , LRG_386:g.6399dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.227dup MANE Select ENSP00000442795.1:p.Ser78IlefsTer?
ENST00000256993.8:c.227dup ENSP00000256993.5:p.Ser78IlefsTer?
ENST00000399249.6:c.227dup ENSP00000382193.2:p.Ser78IlefsTer?
ENST00000544791.1:c.227dup ENSP00000444259.1:p.Ser78IlefsTer?
ENST00000545968.5:c.227dup ENSP00000442795.1:p.Ser78IlefsTer?
NM_000256.3:c.227dup , LRG_386t1:c.227dup MANE Select NP_000247.2:p.Ser78IlefsTer?
XM_011520117.1:c.227dup XP_011518419.1:p.Ser78IlefsTer?
XM_011520118.1:c.227dup XP_011518420.1:p.Ser78IlefsTer?
Search 100 bp 5'
Search 100 bp 3'