Canonical Allele Identifier: CA2613398260
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341168-A-ATGATAC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341168_47341169insTGATAC , CM000673.2:g.47341168_47341169insTGATAC GRCh38
NC_000011.9:g.47362719_47362720insTGATAC , CM000673.1:g.47362719_47362720insTGATAC GRCh37
NC_000011.8:g.47319295_47319296insTGATAC NCBI36
NG_007667.1:g.16534_16535insGTATCA , LRG_386:g.16534_16535insGTATCA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1866_1867insGTATCA MANE Select ENSP00000442795.1:p.Ala622_Cys623insValSer
ENST00000256993.8:c.1866_1867insGTATCA ENSP00000256993.5:p.Ala622_Cys623insValSer
ENST00000399249.6:c.1866_1867insGTATCA ENSP00000382193.2:p.Ala622_Cys623insValSer
ENST00000544791.1:c.1866_1867insGTATCA ENSP00000444259.1:p.Ala622_Cys623insValSer
ENST00000545968.5:c.1866_1867insGTATCA ENSP00000442795.1:p.Ala622_Cys623insValSer
NM_000256.3:c.1866_1867insGTATCA , LRG_386t1:c.1866_1867insGTATCA MANE Select NP_000247.2:p.Ala622_Cys623insValSer
XM_011520117.1:c.1848_1849insGTATCA XP_011518419.1:p.Ala616_Cys617insValSer
XM_011520118.1:c.1866_1867insGTATCA XP_011518420.1:p.Ala622_Cys623insValSer
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