Canonical Allele Identifier: CA10603989
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 281872
ClinVar RCV Id: RCV000351021
dbSNP Id: rs886042250
MyVariant Identifiers: chr11:g.68571474_68571475del (hg19) chr11:g.68804006_68804007del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68804008_68804009del , CM000673.2:g.68804008_68804009del GRCh38
NC_000011.9:g.68571476_68571477del , CM000673.1:g.68571476_68571477del GRCh37
NC_000011.8:g.68328052_68328053del NCBI36
NG_011801.1:g.42925_42926del

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.548_549del MANE Select ENSP00000265641.4:p.Val183GlufsTer?
ENST00000265641.9:c.548_549del ENSP00000265641.4:p.Val183GlufsTer?
ENST00000376618.6:c.548_549del ENSP00000365803.2:p.Val183GlufsTer?
ENST00000539743.5:c.548_549del ENSP00000446108.1:p.Val183GlufsTer?
ENST00000540367.5:c.548_549del ENSP00000439084.1:p.Val183GlufsTer?
NM_001031847.2:c.548_549del NP_001027017.1:p.Val183GlufsTer?
NM_001876.3:c.548_549del NP_001867.2:p.Val183GlufsTer?
XM_005273762.1:c.644_645del XP_005273819.1:p.Val215GlufsTer?
XM_005273763.1:c.644_645del XP_005273820.1:p.Val215GlufsTer?
XM_005273762.3:c.644_645del XP_005273819.1:p.Val215GlufsTer?
XM_017017220.1:c.548_549del XP_016872709.1:p.Val183GlufsTer?
NM_001876.4:c.548_549del MANE Select NP_001867.2:p.Val183GlufsTer?
NM_001031847.3:c.548_549del NP_001027017.1:p.Val183GlufsTer?
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