Canonical Allele Identifier: CA937670668
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095887871
gnomAD v3: 11-47341005-TG-T
gnomAD v4: 11-47341005-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341006del , CM000673.2:g.47341006del GRCh38
NC_000011.9:g.47362557del , CM000673.1:g.47362557del GRCh37
NC_000011.8:g.47319133del NCBI36
NG_007667.1:g.16697del , LRG_386:g.16697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1924del MANE Select ENSP00000442795.1:p.Gln642ArgfsTer21
ENST00000256993.8:c.1924del ENSP00000256993.5:p.Gln642ArgfsTer21
ENST00000399249.6:c.1924del ENSP00000382193.2:p.Gln642ArgfsTer21
ENST00000544791.1:c.1924del ENSP00000444259.1:p.Gln642ArgfsTer21
ENST00000545968.5:c.1924del ENSP00000442795.1:p.Gln642ArgfsTer21
NM_000256.3:c.1924del , LRG_386t1:c.1924del MANE Select NP_000247.2:p.Gln642ArgfsTer21
XM_011520117.1:c.1906del XP_011518419.1:p.Gln636ArgfsTer21
XM_011520118.1:c.1924del XP_011518420.1:p.Gln642ArgfsTer21
Search 100 bp 5'
Search 100 bp 3'