Canonical Allele Identifier: CA2497319740
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794867_68794869dup , CM000673.2:g.68794867_68794869dup GRCh38
NC_000011.9:g.68562335_68562337dup , CM000673.1:g.68562335_68562337dup GRCh37
NC_000011.8:g.68318911_68318913dup NCBI36
NG_011801.1:g.52064_52066dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.815_817dup MANE Select ENSP00000265641.4:p.Ala272_Gly273insAla
ENST00000265641.9:c.815_817dup ENSP00000265641.4:p.Ala272_Gly273insAla
ENST00000376618.6:c.815_817dup ENSP00000365803.2:p.Ala272_Gly273insAla
ENST00000538994.1:c.71_73dup ENSP00000454332.1:p.Ala24_Gly25insAla
ENST00000539743.5:c.815_817dup ENSP00000446108.1:p.Ala272_Gly273insAla
ENST00000540367.5:c.815_817dup ENSP00000439084.1:p.Ala272_Gly273insAla
NM_001031847.2:c.815_817dup NP_001027017.1:p.Ala272_Gly273insAla
NM_001876.3:c.815_817dup NP_001867.2:p.Ala272_Gly273insAla
XM_005273762.1:c.911_913dup XP_005273819.1:p.Ala304_Gly305insAla
XM_005273763.1:c.911_913dup XP_005273820.1:p.Ala304_Gly305insAla
XM_005273762.3:c.911_913dup XP_005273819.1:p.Ala304_Gly305insAla
XM_017017220.1:c.815_817dup XP_016872709.1:p.Ala272_Gly273insAla
NM_001876.4:c.815_817dup MANE Select NP_001867.2:p.Ala272_Gly273insAla
NM_001031847.3:c.815_817dup NP_001027017.1:p.Ala272_Gly273insAla