Canonical Allele Identifier: CA2613398189
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341159-ACAGGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341160_47341164del , CM000673.2:g.47341160_47341164del GRCh38
NC_000011.9:g.47362711_47362715del , CM000673.1:g.47362711_47362715del GRCh37
NC_000011.8:g.47319287_47319291del NCBI36
NG_007667.1:g.16539_16543del , LRG_386:g.16539_16543del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1871_1875del MANE Select ENSP00000442795.1:p.Asn624IlefsTer12
ENST00000256993.8:c.1871_1875del ENSP00000256993.5:p.Asn624IlefsTer12
ENST00000399249.6:c.1871_1875del ENSP00000382193.2:p.Asn624IlefsTer12
ENST00000544791.1:c.1871_1875del ENSP00000444259.1:p.Asn624IlefsTer12
ENST00000545968.5:c.1871_1875del ENSP00000442795.1:p.Asn624IlefsTer12
NM_000256.3:c.1871_1875del , LRG_386t1:c.1871_1875del MANE Select NP_000247.2:p.Asn624IlefsTer12
XM_011520117.1:c.1853_1857del XP_011518419.1:p.Asn618IlefsTer12
XM_011520118.1:c.1871_1875del XP_011518420.1:p.Asn624IlefsTer12
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