Canonical Allele Identifier: CA1969335282
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779902
ClinVar RCV Id: RCV002404011 RCV003317602 RCV003100828
dbSNP Id: rs2095889088
gnomAD v4: 11-47342003-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342004del , CM000673.2:g.47342004del GRCh38
NC_000011.9:g.47363555del , CM000673.1:g.47363555del GRCh37
NC_000011.8:g.47320131del NCBI36
NG_007667.1:g.15699del , LRG_386:g.15699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1777del MANE Select ENSP00000442795.1:p.Ser593ProfsTer9
ENST00000256993.8:c.1777del ENSP00000256993.5:p.Ser593ProfsTer9
ENST00000399249.6:c.1777del ENSP00000382193.2:p.Ser593ProfsTer9
ENST00000544791.1:c.1777del ENSP00000444259.1:p.Ser593ProfsTer9
ENST00000545968.5:c.1777del ENSP00000442795.1:p.Ser593ProfsTer9
NM_000256.3:c.1777del , LRG_386t1:c.1777del MANE Select NP_000247.2:p.Ser593ProfsTer9
XM_011520117.1:c.1759del XP_011518419.1:p.Ser587ProfsTer9
XM_011520118.1:c.1777del XP_011518420.1:p.Ser593ProfsTer9
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