Canonical Allele Identifier: CA16042811
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372418
ClinVar RCV Id: RCV000414044 RCV000621784 RCV001861410
dbSNP Id: rs1057517767
MyVariant Identifiers: chr11:g.47372085_47372086del (hg19) chr11:g.47350534_47350535del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47350535_47350536del , CM000673.2:g.47350535_47350536del GRCh38
NC_000011.9:g.47372086_47372087del , CM000673.1:g.47372086_47372087del GRCh37
NC_000011.8:g.47328662_47328663del NCBI36
NG_007667.1:g.7168_7169del , LRG_386:g.7168_7169del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.373_374del MANE Select ENSP00000442795.1:p.Ala125Ter
ENST00000256993.8:c.373_374del ENSP00000256993.5:p.Ala125Ter
ENST00000399249.6:c.373_374del ENSP00000382193.2:p.Ala125Ter
ENST00000544791.1:c.373_374del ENSP00000444259.1:p.Ala125Ter
ENST00000545968.5:c.373_374del ENSP00000442795.1:p.Ala125Ter
NM_000256.3:c.373_374del , LRG_386t1:c.373_374del MANE Select NP_000247.2:p.Ala125Ter
XM_011520117.1:c.373_374del XP_011518419.1:p.Ala125Ter
XM_011520118.1:c.373_374del XP_011518420.1:p.Ala125Ter
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