Canonical Allele Identifier: CA2574903251
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68782012_68782016del , CM000673.2:g.68782012_68782016del GRCh38
NC_000011.9:g.68549480_68549484del , CM000673.1:g.68549480_68549484del GRCh37
NC_000011.8:g.68306056_68306060del NCBI36
NG_011801.1:g.64916_64920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1164-57_1164-53del MANE Select ENSP00000265641.4:n.1164-57_1164-53del
ENST00000265641.9:c.1164-57_1164-53del ENSP00000265641.4:n.1164-57_1164-53del
ENST00000376618.6:c.1164-57_1164-53del ENSP00000365803.2:n.1164-57_1164-53del
ENST00000539743.5:c.1164-57_1164-53del ENSP00000446108.1:n.1164-57_1164-53del
ENST00000540367.5:c.1164-57_1164-53del ENSP00000439084.1:n.1164-57_1164-53del
NM_001031847.2:c.1164-57_1164-53del NP_001027017.1:n.1164-57_1164-53del
NM_001876.3:c.1164-57_1164-53del NP_001867.2:n.1164-57_1164-53del
XM_005273762.1:c.1260-57_1260-53del XP_005273819.1:n.1260-57_1260-53del
XM_005273763.1:c.1260-57_1260-53del XP_005273820.1:n.1260-57_1260-53del
XM_005273762.3:c.1260-57_1260-53del XP_005273819.1:n.1260-57_1260-53del
XM_017017220.1:c.1164-57_1164-53del XP_016872709.1:n.1164-57_1164-53del
NM_001876.4:c.1164-57_1164-53del MANE Select NP_001867.2:n.1164-57_1164-53del
NM_001031847.3:c.1164-57_1164-53del NP_001027017.1:n.1164-57_1164-53del