Canonical Allele Identifier: CA2613398236
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341165-TGC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341166_47341167del , CM000673.2:g.47341166_47341167del GRCh38
NC_000011.9:g.47362717_47362718del , CM000673.1:g.47362717_47362718del GRCh37
NC_000011.8:g.47319293_47319294del NCBI36
NG_007667.1:g.16536_16537del , LRG_386:g.16536_16537del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1868_1869del MANE Select ENSP00000442795.1:p.Cys623Ter
ENST00000256993.8:c.1868_1869del ENSP00000256993.5:p.Cys623Ter
ENST00000399249.6:c.1868_1869del ENSP00000382193.2:p.Cys623Ter
ENST00000544791.1:c.1868_1869del ENSP00000444259.1:p.Cys623Ter
ENST00000545968.5:c.1868_1869del ENSP00000442795.1:p.Cys623Ter
NM_000256.3:c.1868_1869del , LRG_386t1:c.1868_1869del MANE Select NP_000247.2:p.Cys623Ter
XM_011520117.1:c.1850_1851del XP_011518419.1:p.Cys617Ter
XM_011520118.1:c.1868_1869del XP_011518420.1:p.Cys623Ter
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