Canonical Allele Identifier: CA2695212785
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342110_47342111del , CM000673.2:g.47342110_47342111del GRCh38
NC_000011.9:g.47363661_47363662del , CM000673.1:g.47363661_47363662del GRCh37
NC_000011.8:g.47320237_47320238del NCBI36
NG_007667.1:g.15594_15595del , LRG_386:g.15594_15595del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1672_1673del MANE Select ENSP00000442795.1:p.Ala558LysfsTer9
ENST00000256993.8:c.1672_1673del ENSP00000256993.5:p.Ala558LysfsTer9
ENST00000399249.6:c.1672_1673del ENSP00000382193.2:p.Ala558LysfsTer9
ENST00000544791.1:c.1672_1673del ENSP00000444259.1:p.Ala558LysfsTer9
ENST00000545968.5:c.1672_1673del ENSP00000442795.1:p.Ala558LysfsTer9
NM_000256.3:c.1672_1673del , LRG_386t1:c.1672_1673del MANE Select NP_000247.2:p.Ala558LysfsTer9
XM_011520117.1:c.1654_1655del XP_011518419.1:p.Ala552LysfsTer9
XM_011520118.1:c.1672_1673del XP_011518420.1:p.Ala558LysfsTer9
Search 100 bp 5'
Search 100 bp 3'