Canonical Allele Identifier: CA2842886003
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68760193del , CM000673.2:g.68760193del GRCh38
NC_000011.9:g.68527661del , CM000673.1:g.68527661del GRCh37
NC_000011.8:g.68284237del NCBI36
NG_011801.1:g.86742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.2142+35del MANE Select ENSP00000265641.4:n.2142+35del
ENST00000265641.9:c.2142+35del ENSP00000265641.4:n.2142+35del
ENST00000376618.6:c.2142+35del ENSP00000365803.2:n.2142+35del
ENST00000539743.5:c.2142+35del ENSP00000446108.1:n.2142+35del
ENST00000540367.5:c.2142+35del ENSP00000439084.1:n.2142+35del
NM_001031847.2:c.2142+35del NP_001027017.1:n.2142+35del
NM_001876.3:c.2142+35del NP_001867.2:n.2142+35del
XM_005273762.1:c.2238+35del XP_005273819.1:n.2238+35del
XM_005273763.1:c.2238+35del XP_005273820.1:n.2238+35del
XM_005273762.3:c.2238+35del XP_005273819.1:n.2238+35del
XM_017017220.1:c.2142+35del XP_016872709.1:n.2142+35del
NM_001876.4:c.2142+35del MANE Select NP_001867.2:n.2142+35del
NM_001031847.3:c.2142+35del NP_001027017.1:n.2142+35del