Canonical Allele Identifier: CA2614737330

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68793394-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793396_68793397dup , CM000673.2:g.68793396_68793397dup	GRCh38
NC_000011.9:g.68560864_68560865dup , CM000673.1:g.68560864_68560865dup	GRCh37
NC_000011.8:g.68317440_68317441dup	NCBI36
NG_011801.1:g.53536_53537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.886_887dup MANE Select	ENSP00000265641.4:p.Leu297PhefsTer?
ENST00000265641.9:c.886_887dup	ENSP00000265641.4:p.Leu297PhefsTer?
ENST00000376618.6:c.886_887dup	ENSP00000365803.2:p.Leu297PhefsTer?
ENST00000538994.1:c.142_143dup	ENSP00000454332.1:p.Leu49PhefsTer?
ENST00000539743.5:c.886_887dup	ENSP00000446108.1:p.Leu297PhefsTer?
ENST00000540367.5:c.886_887dup	ENSP00000439084.1:p.Leu297PhefsTer?
NM_001031847.2:c.886_887dup	NP_001027017.1:p.Leu297PhefsTer?
NM_001876.3:c.886_887dup	NP_001867.2:p.Leu297PhefsTer?
XM_005273762.1:c.982_983dup	XP_005273819.1:p.Leu329PhefsTer?
XM_005273763.1:c.982_983dup	XP_005273820.1:p.Leu329PhefsTer?
XM_005273762.3:c.982_983dup	XP_005273819.1:p.Leu329PhefsTer?
XM_017017220.1:c.886_887dup	XP_016872709.1:p.Leu297PhefsTer?
NM_001876.4:c.886_887dup MANE Select	NP_001867.2:p.Leu297PhefsTer?
NM_001031847.3:c.886_887dup	NP_001027017.1:p.Leu297PhefsTer?