Canonical Allele Identifier: CA2580084159
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1735286
ClinVar RCV Id: RCV002364017
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47331849_47331872del , CM000673.2:g.47331849_47331872del GRCh38
NC_000011.9:g.47353400_47353423del , CM000673.1:g.47353400_47353423del GRCh37
NC_000011.8:g.47309976_47309999del NCBI36
NG_007667.1:g.25831_25854del , LRG_386:g.25831_25854del
NG_029462.1:g.67474_67497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3824_*22del MANE Select ENSP00000442795.1:n.[c.3824_*22del;Ter1275SerextTer?]
ENST00000256993.8:c.3824_*22del ENSP00000256993.5:n.[c.3824_*22del;Ter1275SerextTer?]
ENST00000399249.6:c.3824_*22del ENSP00000382193.2:n.[c.3824_*22del;Ter1275SerextTer?]
ENST00000545968.5:c.3824_*22del ENSP00000442795.1:n.[c.3824_*22del;Ter1275SerextTer?]
NM_000256.3:c.3824_*22del , LRG_386t1:c.3824_*22del MANE Select NP_000247.2:n.[c.3824_*22del;Ter1275SerextTer?]
XM_011520117.1:c.3806_*22del XP_011518419.1:n.[c.3806_*22del;Ter1269SerextTer?]
XM_011520118.1:c.3743_*22del XP_011518420.1:n.[c.3743_*22del;Ter1248SerextTer?]
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