Canonical Allele Identifier: CA015140
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181107
ClinVar RCV Id: RCV000158412 RCV001385759
dbSNP Id: rs730880679
MyVariant Identifiers: chr11:g.47371617del (hg19) chr11:g.47350066del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47350066del , CM000673.2:g.47350066del GRCh38
NC_000011.9:g.47371617del , CM000673.1:g.47371617del GRCh37
NC_000011.8:g.47328193del NCBI36
NG_007667.1:g.7637del , LRG_386:g.7637del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.453del MANE Select ENSP00000442795.1:p.Asp151GlufsTer8
ENST00000256993.8:c.453del ENSP00000256993.5:p.Asp151GlufsTer8
ENST00000399249.6:c.453del ENSP00000382193.2:p.Asp151GlufsTer8
ENST00000544791.1:c.453del ENSP00000444259.1:p.Asp151GlufsTer8
ENST00000545968.5:c.453del ENSP00000442795.1:p.Asp151GlufsTer8
NM_000256.3:c.453del , LRG_386t1:c.453del MANE Select NP_000247.2:p.Asp151GlufsTer8
XM_011520117.1:c.453del XP_011518419.1:p.Asp151GlufsTer8
XM_011520118.1:c.453del XP_011518420.1:p.Asp151GlufsTer8
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