Canonical Allele Identifier: CA344980
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 65651
ClinVar RCV Id: RCV000055864
dbSNP Id: rs80356799
MyVariant Identifiers: chr11:g.68529001_68529004del (hg19) chr11:g.68761533_68761536del (hg38)
PubMed: PMID:12111367 PMID:20301700
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68761533_68761536del , CM000673.2:g.68761533_68761536del GRCh38
NC_000011.9:g.68529001_68529004del , CM000673.1:g.68529001_68529004del GRCh37
NC_000011.8:g.68285577_68285580del NCBI36
NG_011801.1:g.85400_85403del

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2028+3_2028+6del
ENST00000265641.9:c.2028+3_2028+6del
ENST00000376618.6:c.2028+3_2028+6del
ENST00000539743.5:c.2028+3_2028+6del
ENST00000540367.5:c.2028+3_2028+6del
NM_001031847.2:c.2028+3_2028+6del
NM_001876.3:c.2028+3_2028+6del
XM_005273762.1:c.2124+3_2124+6del
XM_005273763.1:c.2124+3_2124+6del
XM_005273762.3:c.2124+3_2124+6del
XM_017017220.1:c.2028+3_2028+6del
NM_001876.4:c.2028+3_2028+6del
NM_001031847.3:c.2028+3_2028+6del
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