Canonical Allele Identifier: CA2614740827
Gene: CPT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68803931_68803933del , CM000673.2:g.68803931_68803933del GRCh38
NC_000011.9:g.68571399_68571401del , CM000673.1:g.68571399_68571401del GRCh37
NC_000011.8:g.68327975_68327977del NCBI36
NG_011801.1:g.43003_43005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.555+71_555+73del MANE Select ENSP00000265641.4:n.555+71_555+73del
ENST00000265641.9:c.555+71_555+73del ENSP00000265641.4:n.555+71_555+73del
ENST00000376618.6:c.555+71_555+73del ENSP00000365803.2:n.555+71_555+73del
ENST00000539743.5:c.555+71_555+73del ENSP00000446108.1:n.555+71_555+73del
ENST00000540367.5:c.555+71_555+73del ENSP00000439084.1:n.555+71_555+73del
NM_001031847.2:c.555+71_555+73del NP_001027017.1:n.555+71_555+73del
NM_001876.3:c.555+71_555+73del NP_001867.2:n.555+71_555+73del
XM_005273762.1:c.651+71_651+73del XP_005273819.1:n.651+71_651+73del
XM_005273763.1:c.651+71_651+73del XP_005273820.1:n.651+71_651+73del
XM_005273762.3:c.651+71_651+73del XP_005273819.1:n.651+71_651+73del
XM_017017220.1:c.555+71_555+73del XP_016872709.1:n.555+71_555+73del
NM_001876.4:c.555+71_555+73del MANE Select NP_001867.2:n.555+71_555+73del
NM_001031847.3:c.555+71_555+73del NP_001027017.1:n.555+71_555+73del