Canonical Allele Identifier: CA2614737475
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68793508_68793510del , CM000673.2:g.68793508_68793510del GRCh38
NC_000011.9:g.68560976_68560978del , CM000673.1:g.68560976_68560978del GRCh37
NC_000011.8:g.68317552_68317554del NCBI36
NG_011801.1:g.53422_53424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.880-108_880-106del MANE Select ENSP00000265641.4:n.880-108_880-106del
ENST00000265641.9:c.880-108_880-106del ENSP00000265641.4:n.880-108_880-106del
ENST00000376618.6:c.880-108_880-106del ENSP00000365803.2:n.880-108_880-106del
ENST00000538994.1:c.136-108_136-106del ENSP00000454332.1:n.136-108_136-106del
ENST00000539743.5:c.880-108_880-106del ENSP00000446108.1:n.880-108_880-106del
ENST00000540367.5:c.880-108_880-106del ENSP00000439084.1:n.880-108_880-106del
NM_001031847.2:c.880-108_880-106del NP_001027017.1:n.880-108_880-106del
NM_001876.3:c.880-108_880-106del NP_001867.2:n.880-108_880-106del
XM_005273762.1:c.976-108_976-106del XP_005273819.1:n.976-108_976-106del
XM_005273763.1:c.976-108_976-106del XP_005273820.1:n.976-108_976-106del
XM_005273762.3:c.976-108_976-106del XP_005273819.1:n.976-108_976-106del
XM_017017220.1:c.880-108_880-106del XP_016872709.1:n.880-108_880-106del
NM_001876.4:c.880-108_880-106del MANE Select NP_001867.2:n.880-108_880-106del
NM_001031847.3:c.880-108_880-106del NP_001027017.1:n.880-108_880-106del