Canonical Allele Identifier: CA2792553037
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68784782_68784783insAAACACAC , CM000673.2:g.68784782_68784783insAAACACAC GRCh38
NC_000011.9:g.68552250_68552251insAAACACAC , CM000673.1:g.68552250_68552251insAAACACAC GRCh37
NC_000011.8:g.68308826_68308827insAAACACAC NCBI36
NG_011801.1:g.62150_62151insTGTGTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.1163+33_1163+34insTGTGTTTG MANE Select ENSP00000265641.4:n.1163+33_1163+34insTGTGTTTG
ENST00000265641.9:c.1163+33_1163+34insTGTGTTTG ENSP00000265641.4:n.1163+33_1163+34insTGTGTTTG
ENST00000376618.6:c.1163+33_1163+34insTGTGTTTG ENSP00000365803.2:n.1163+33_1163+34insTGTGTTTG
ENST00000539743.5:c.1163+33_1163+34insTGTGTTTG ENSP00000446108.1:n.1163+33_1163+34insTGTGTTTG
ENST00000540367.5:c.1163+33_1163+34insTGTGTTTG ENSP00000439084.1:n.1163+33_1163+34insTGTGTTTG
NM_001031847.2:c.1163+33_1163+34insTGTGTTTG NP_001027017.1:n.1163+33_1163+34insTGTGTTTG
NM_001876.3:c.1163+33_1163+34insTGTGTTTG NP_001867.2:n.1163+33_1163+34insTGTGTTTG
XM_005273762.1:c.1259+33_1259+34insTGTGTTTG XP_005273819.1:n.1259+33_1259+34insTGTGTTTG
XM_005273763.1:c.1259+33_1259+34insTGTGTTTG XP_005273820.1:n.1259+33_1259+34insTGTGTTTG
XM_005273762.3:c.1259+33_1259+34insTGTGTTTG XP_005273819.1:n.1259+33_1259+34insTGTGTTTG
XM_017017220.1:c.1163+33_1163+34insTGTGTTTG XP_016872709.1:n.1163+33_1163+34insTGTGTTTG
NM_001876.4:c.1163+33_1163+34insTGTGTTTG MANE Select NP_001867.2:n.1163+33_1163+34insTGTGTTTG
NM_001031847.3:c.1163+33_1163+34insTGTGTTTG NP_001027017.1:n.1163+33_1163+34insTGTGTTTG