Canonical Allele Identifier: CA2695212786
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342113del , CM000673.2:g.47342113del GRCh38
NC_000011.9:g.47363664del , CM000673.1:g.47363664del GRCh37
NC_000011.8:g.47320240del NCBI36
NG_007667.1:g.15592del , LRG_386:g.15592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1670del MANE Select ENSP00000442795.1:p.Gly557AlafsTer22
ENST00000256993.8:c.1670del ENSP00000256993.5:p.Gly557AlafsTer22
ENST00000399249.6:c.1670del ENSP00000382193.2:p.Gly557AlafsTer22
ENST00000544791.1:c.1670del ENSP00000444259.1:p.Gly557AlafsTer22
ENST00000545968.5:c.1670del ENSP00000442795.1:p.Gly557AlafsTer22
NM_000256.3:c.1670del , LRG_386t1:c.1670del MANE Select NP_000247.2:p.Gly557AlafsTer22
XM_011520117.1:c.1652del XP_011518419.1:p.Gly551AlafsTer22
XM_011520118.1:c.1670del XP_011518420.1:p.Gly557AlafsTer22
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