Canonical Allele Identifier: CA645575723

Gene: CPT1A

Linked Data

• COSMIC: COSM4565508 ; COSM4565509

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759628_68759629delinsAA , CM000673.2:g.68759628_68759629delinsAA	GRCh38
NC_000011.9:g.68527096_68527097delinsAA , CM000673.1:g.68527096_68527097delinsAA	GRCh37
NC_000011.8:g.68283672_68283673delinsAA	NCBI36
NG_011801.1:g.87303_87304delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2175_2176delinsTT MANE Select	ENSP00000265641.4:p.Leu726Phe
ENST00000265641.9:c.2175_2176delinsTT	ENSP00000265641.4:p.Leu726Phe
ENST00000376618.6:c.2175_2176delinsTT	ENSP00000365803.2:p.Leu726Phe
ENST00000539743.5:c.2175_2176delinsTT	ENSP00000446108.1:p.Leu726Phe
ENST00000540367.5:c.2175_2176delinsTT	ENSP00000439084.1:p.Leu726Phe
NM_001031847.2:c.2175_2176delinsTT	NP_001027017.1:p.Leu726Phe
NM_001876.3:c.2175_2176delinsTT	NP_001867.2:p.Leu726Phe
XM_005273762.1:c.2271_2272delinsTT	XP_005273819.1:p.Leu758Phe
XM_005273763.1:c.2271_2272delinsTT	XP_005273820.1:p.Leu758Phe
XM_005273762.3:c.2271_2272delinsTT	XP_005273819.1:p.Leu758Phe
XM_017017220.1:c.2175_2176delinsTT	XP_016872709.1:p.Leu726Phe
NM_001876.4:c.2175_2176delinsTT MANE Select	NP_001867.2:p.Leu726Phe
NM_001031847.3:c.2175_2176delinsTT	NP_001027017.1:p.Leu726Phe