Canonical Allele Identifier: CA2614737363
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68793451_68793453del , CM000673.2:g.68793451_68793453del GRCh38
NC_000011.9:g.68560919_68560921del , CM000673.1:g.68560919_68560921del GRCh37
NC_000011.8:g.68317495_68317497del NCBI36
NG_011801.1:g.53480_53482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.880-50_880-48del MANE Select ENSP00000265641.4:n.880-50_880-48del
ENST00000265641.9:c.880-50_880-48del ENSP00000265641.4:n.880-50_880-48del
ENST00000376618.6:c.880-50_880-48del ENSP00000365803.2:n.880-50_880-48del
ENST00000538994.1:c.136-50_136-48del ENSP00000454332.1:n.136-50_136-48del
ENST00000539743.5:c.880-50_880-48del ENSP00000446108.1:n.880-50_880-48del
ENST00000540367.5:c.880-50_880-48del ENSP00000439084.1:n.880-50_880-48del
NM_001031847.2:c.880-50_880-48del NP_001027017.1:n.880-50_880-48del
NM_001876.3:c.880-50_880-48del NP_001867.2:n.880-50_880-48del
XM_005273762.1:c.976-50_976-48del XP_005273819.1:n.976-50_976-48del
XM_005273763.1:c.976-50_976-48del XP_005273820.1:n.976-50_976-48del
XM_005273762.3:c.976-50_976-48del XP_005273819.1:n.976-50_976-48del
XM_017017220.1:c.880-50_880-48del XP_016872709.1:n.880-50_880-48del
NM_001876.4:c.880-50_880-48del MANE Select NP_001867.2:n.880-50_880-48del
NM_001031847.3:c.880-50_880-48del NP_001027017.1:n.880-50_880-48del