Canonical Allele Identifier: CA2497319869
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1010287
ClinVar RCV Id: RCV001307893
dbSNP Id: rs1856241184

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812479_68812499del , CM000673.2:g.68812479_68812499del GRCh38
NC_000011.9:g.68579947_68579967del , CM000673.1:g.68579947_68579967del GRCh37
NC_000011.8:g.68336523_68336543del NCBI36
NG_011801.1:g.34435_34455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.221_241del MANE Select ENSP00000265641.4:p.Tyr74_Ser80del
ENST00000265641.9:c.221_241del ENSP00000265641.4:p.Tyr74_Ser80del
ENST00000376618.6:c.221_241del ENSP00000365803.2:p.Tyr74_Ser80del
ENST00000539743.5:c.221_241del ENSP00000446108.1:p.Tyr74_Ser80del
ENST00000540367.5:c.221_241del ENSP00000439084.1:p.Tyr74_Ser80del
ENST00000561996.1:c.221_241del ENSP00000457663.1:p.Tyr74_Ser80del
ENST00000565318.5:c.221_241del ENSP00000457826.1:p.Tyr74_Ser80del
ENST00000569129.5:c.221_241del ENSP00000455116.1:p.Tyr74_Ser80del
NM_001031847.2:c.221_241del NP_001027017.1:p.Tyr74_Ser80del
NM_001876.3:c.221_241del NP_001867.2:p.Tyr74_Ser80del
XM_005273762.1:c.317_337del XP_005273819.1:p.Tyr106_Ser112del
XM_005273763.1:c.317_337del XP_005273820.1:p.Tyr106_Ser112del
XM_005273762.3:c.317_337del XP_005273819.1:p.Tyr106_Ser112del
XM_017017220.1:c.221_241del XP_016872709.1:p.Tyr74_Ser80del
NM_001876.4:c.221_241del MANE Select NP_001867.2:p.Tyr74_Ser80del
NM_001031847.3:c.221_241del NP_001027017.1:p.Tyr74_Ser80del