Canonical Allele Identifier: CA2976665797
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794773del , CM000673.2:g.68794773del GRCh38
NC_000011.9:g.68562241del , CM000673.1:g.68562241del GRCh37
NC_000011.8:g.68318817del NCBI36
NG_011801.1:g.52162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.879+34del MANE Select ENSP00000265641.4:n.879+34del
ENST00000265641.9:c.879+34del ENSP00000265641.4:n.879+34del
ENST00000376618.6:c.879+34del ENSP00000365803.2:n.879+34del
ENST00000538994.1:c.135+34del ENSP00000454332.1:n.135+34del
ENST00000539743.5:c.879+34del ENSP00000446108.1:n.879+34del
ENST00000540367.5:c.879+34del ENSP00000439084.1:n.879+34del
NM_001031847.2:c.879+34del NP_001027017.1:n.879+34del
NM_001876.3:c.879+34del NP_001867.2:n.879+34del
XM_005273762.1:c.975+34del XP_005273819.1:n.975+34del
XM_005273763.1:c.975+34del XP_005273820.1:n.975+34del
XM_005273762.3:c.975+34del XP_005273819.1:n.975+34del
XM_017017220.1:c.879+34del XP_016872709.1:n.879+34del
NM_001876.4:c.879+34del MANE Select NP_001867.2:n.879+34del
NM_001031847.3:c.879+34del NP_001027017.1:n.879+34del