Canonical Allele Identifier: CA2613398244
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341166-G-GTTAATGATA
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341166_47341167insTTAATGATA , CM000673.2:g.47341166_47341167insTTAATGATA GRCh38
NC_000011.9:g.47362717_47362718insTTAATGATA , CM000673.1:g.47362717_47362718insTTAATGATA GRCh37
NC_000011.8:g.47319293_47319294insTTAATGATA NCBI36
NG_007667.1:g.16536_16537insTATCATTAA , LRG_386:g.16536_16537insTATCATTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1868_1869insTATCATTAA MANE Select ENSP00000442795.1:p.Cys623_Asn624insIleIleAsn
ENST00000256993.8:c.1868_1869insTATCATTAA ENSP00000256993.5:p.Cys623_Asn624insIleIleAsn
ENST00000399249.6:c.1868_1869insTATCATTAA ENSP00000382193.2:p.Cys623_Asn624insIleIleAsn
ENST00000544791.1:c.1868_1869insTATCATTAA ENSP00000444259.1:p.Cys623_Asn624insIleIleAsn
ENST00000545968.5:c.1868_1869insTATCATTAA ENSP00000442795.1:p.Cys623_Asn624insIleIleAsn
NM_000256.3:c.1868_1869insTATCATTAA , LRG_386t1:c.1868_1869insTATCATTAA MANE Select NP_000247.2:p.Cys623_Asn624insIleIleAsn
XM_011520117.1:c.1850_1851insTATCATTAA XP_011518419.1:p.Cys617_Asn618insIleIleAsn
XM_011520118.1:c.1868_1869insTATCATTAA XP_011518420.1:p.Cys623_Asn624insIleIleAsn
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