Canonical Allele Identifier: CA2580084166
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448098
ClinVar RCV Id: RCV003181469
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346250del , CM000673.2:g.47346250del GRCh38
NC_000011.9:g.47367801del , CM000673.1:g.47367801del GRCh37
NC_000011.8:g.47324377del NCBI36
NG_007667.1:g.11455del , LRG_386:g.11455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1049del MANE Select ENSP00000442795.1:p.Lys350ArgfsTer6
ENST00000256993.8:c.1049del ENSP00000256993.5:p.Lys350ArgfsTer6
ENST00000399249.6:c.1049del ENSP00000382193.2:p.Lys350ArgfsTer6
ENST00000544791.1:c.1049del ENSP00000444259.1:p.Lys350ArgfsTer6
ENST00000545968.5:c.1049del ENSP00000442795.1:p.Lys350ArgfsTer6
NM_000256.3:c.1049del , LRG_386t1:c.1049del MANE Select NP_000247.2:p.Lys350ArgfsTer6
XM_011520117.1:c.1031del XP_011518419.1:p.Lys344ArgfsTer6
XM_011520118.1:c.1049del XP_011518420.1:p.Lys350ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'