Canonical Allele Identifier: CA2614730972
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68761496_68761498del , CM000673.2:g.68761496_68761498del GRCh38
NC_000011.9:g.68528964_68528966del , CM000673.1:g.68528964_68528966del GRCh37
NC_000011.8:g.68285540_68285542del NCBI36
NG_011801.1:g.85434_85436del

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2028+37_2028+39del MANE Select ENSP00000265641.4:n.2028+37_2028+39del
ENST00000265641.9:c.2028+37_2028+39del ENSP00000265641.4:n.2028+37_2028+39del
ENST00000376618.6:c.2028+37_2028+39del ENSP00000365803.2:n.2028+37_2028+39del
ENST00000539743.5:c.2028+37_2028+39del ENSP00000446108.1:n.2028+37_2028+39del
ENST00000540367.5:c.2028+37_2028+39del ENSP00000439084.1:n.2028+37_2028+39del
NM_001031847.2:c.2028+37_2028+39del NP_001027017.1:n.2028+37_2028+39del
NM_001876.3:c.2028+37_2028+39del NP_001867.2:n.2028+37_2028+39del
XM_005273762.1:c.2124+37_2124+39del XP_005273819.1:n.2124+37_2124+39del
XM_005273763.1:c.2124+37_2124+39del XP_005273820.1:n.2124+37_2124+39del
XM_005273762.3:c.2124+37_2124+39del XP_005273819.1:n.2124+37_2124+39del
XM_017017220.1:c.2028+37_2028+39del XP_016872709.1:n.2028+37_2028+39del
NM_001876.4:c.2028+37_2028+39del MANE Select NP_001867.2:n.2028+37_2028+39del
NM_001031847.3:c.2028+37_2028+39del NP_001027017.1:n.2028+37_2028+39del