Canonical Allele Identifier: CA2523176709
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68781523del , CM000673.2:g.68781523del GRCh38
NC_000011.9:g.68548991del , CM000673.1:g.68548991del GRCh37
NC_000011.8:g.68305567del NCBI36
NG_011801.1:g.65410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1352+249del MANE Select ENSP00000265641.4:n.1352+249del
ENST00000265641.9:c.1352+249del ENSP00000265641.4:n.1352+249del
ENST00000376618.6:c.1352+249del ENSP00000365803.2:n.1352+249del
ENST00000539743.5:c.1352+249del ENSP00000446108.1:n.1352+249del
ENST00000540367.5:c.1352+249del ENSP00000439084.1:n.1352+249del
NM_001031847.2:c.1352+249del NP_001027017.1:n.1352+249del
NM_001876.3:c.1352+249del NP_001867.2:n.1352+249del
XM_005273762.1:c.1448+249del XP_005273819.1:n.1448+249del
XM_005273763.1:c.1448+249del XP_005273820.1:n.1448+249del
XM_005273762.3:c.1448+249del XP_005273819.1:n.1448+249del
XM_017017220.1:c.1352+249del XP_016872709.1:n.1352+249del
NM_001876.4:c.1352+249del MANE Select NP_001867.2:n.1352+249del
NM_001031847.3:c.1352+249del NP_001027017.1:n.1352+249del