Canonical Allele Identifier: CA2613394313
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47347672-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347674del , CM000673.2:g.47347674del GRCh38
NC_000011.9:g.47369225del , CM000673.1:g.47369225del GRCh37
NC_000011.8:g.47325801del NCBI36
NG_007667.1:g.10030del , LRG_386:g.10030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.829del MANE Select ENSP00000442795.1:p.Ala277LeufsTer23
ENST00000256993.8:c.829del ENSP00000256993.5:p.Ala277LeufsTer23
ENST00000399249.6:c.829del ENSP00000382193.2:p.Ala277LeufsTer23
ENST00000544791.1:c.829del ENSP00000444259.1:p.Ala277LeufsTer23
ENST00000545968.5:c.829del ENSP00000442795.1:p.Ala277LeufsTer23
NM_000256.3:c.829del , LRG_386t1:c.829del MANE Select NP_000247.2:p.Ala277LeufsTer23
XM_011520117.1:c.829del XP_011518419.1:p.Ala277LeufsTer23
XM_011520118.1:c.829del XP_011518420.1:p.Ala277LeufsTer23
Search 100 bp 5'
Search 100 bp 3'