Canonical Allele Identifier: CA2695214002
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351277_47351279del , CM000673.2:g.47351277_47351279del GRCh38
NC_000011.9:g.47372828_47372830del , CM000673.1:g.47372828_47372830del GRCh37
NC_000011.8:g.47329404_47329406del NCBI36
NG_007667.1:g.6428_6430del , LRG_386:g.6428_6430del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.256_258del MANE Select ENSP00000442795.1:p.Ser86del
ENST00000256993.8:c.256_258del ENSP00000256993.5:p.Ser86del
ENST00000399249.6:c.256_258del ENSP00000382193.2:p.Ser86del
ENST00000544791.1:c.256_258del ENSP00000444259.1:p.Ser86del
ENST00000545968.5:c.256_258del ENSP00000442795.1:p.Ser86del
NM_000256.3:c.256_258del , LRG_386t1:c.256_258del MANE Select NP_000247.2:p.Ser86del
XM_011520117.1:c.256_258del XP_011518419.1:p.Ser86del
XM_011520118.1:c.256_258del XP_011518420.1:p.Ser86del
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