Canonical Allele Identifier: CA2792553353
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68793527_68793528insCT , CM000673.2:g.68793527_68793528insCT GRCh38
NC_000011.9:g.68560995_68560996insCT , CM000673.1:g.68560995_68560996insCT GRCh37
NC_000011.8:g.68317571_68317572insCT NCBI36
NG_011801.1:g.53404_53405insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.880-126_880-125insAG MANE Select ENSP00000265641.4:n.880-126_880-125insAG
ENST00000265641.9:c.880-126_880-125insAG ENSP00000265641.4:n.880-126_880-125insAG
ENST00000376618.6:c.880-126_880-125insAG ENSP00000365803.2:n.880-126_880-125insAG
ENST00000538994.1:c.136-126_136-125insAG ENSP00000454332.1:n.136-126_136-125insAG
ENST00000539743.5:c.880-126_880-125insAG ENSP00000446108.1:n.880-126_880-125insAG
ENST00000540367.5:c.880-126_880-125insAG ENSP00000439084.1:n.880-126_880-125insAG
NM_001031847.2:c.880-126_880-125insAG NP_001027017.1:n.880-126_880-125insAG
NM_001876.3:c.880-126_880-125insAG NP_001867.2:n.880-126_880-125insAG
XM_005273762.1:c.976-126_976-125insAG XP_005273819.1:n.976-126_976-125insAG
XM_005273763.1:c.976-126_976-125insAG XP_005273820.1:n.976-126_976-125insAG
XM_005273762.3:c.976-126_976-125insAG XP_005273819.1:n.976-126_976-125insAG
XM_017017220.1:c.880-126_880-125insAG XP_016872709.1:n.880-126_880-125insAG
NM_001876.4:c.880-126_880-125insAG MANE Select NP_001867.2:n.880-126_880-125insAG
NM_001031847.3:c.880-126_880-125insAG NP_001027017.1:n.880-126_880-125insAG