Canonical Allele Identifier: CA2613398269
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341168-A-AATGATAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341168_47341169insATGATAC , CM000673.2:g.47341168_47341169insATGATAC GRCh38
NC_000011.9:g.47362719_47362720insATGATAC , CM000673.1:g.47362719_47362720insATGATAC GRCh37
NC_000011.8:g.47319295_47319296insATGATAC NCBI36
NG_007667.1:g.16534_16535insGTATCAT , LRG_386:g.16534_16535insGTATCAT

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1866_1867insGTATCAT MANE Select ENSP00000442795.1:p.Cys623ValfsTer17
ENST00000256993.8:c.1866_1867insGTATCAT ENSP00000256993.5:p.Cys623ValfsTer17
ENST00000399249.6:c.1866_1867insGTATCAT ENSP00000382193.2:p.Cys623ValfsTer17
ENST00000544791.1:c.1866_1867insGTATCAT ENSP00000444259.1:p.Cys623ValfsTer17
ENST00000545968.5:c.1866_1867insGTATCAT ENSP00000442795.1:p.Cys623ValfsTer17
NM_000256.3:c.1866_1867insGTATCAT , LRG_386t1:c.1866_1867insGTATCAT MANE Select NP_000247.2:p.Cys623ValfsTer17
XM_011520117.1:c.1848_1849insGTATCAT XP_011518419.1:p.Cys617ValfsTer17
XM_011520118.1:c.1866_1867insGTATCAT XP_011518420.1:p.Cys623ValfsTer17
Search 100 bp 5'
Search 100 bp 3'