Canonical Allele Identifier: CA2574903445

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1726764
• ClinVar RCV Id: RCV002310448

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804075del , CM000673.2:g.68804075del	GRCh38
NC_000011.9:g.68571543del , CM000673.1:g.68571543del	GRCh37
NC_000011.8:g.68328119del	NCBI36
NG_011801.1:g.42860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.483del MANE Select	ENSP00000265641.4:p.Lys161AsnfsTer23
ENST00000265641.9:c.483del	ENSP00000265641.4:p.Lys161AsnfsTer23
ENST00000376618.6:c.483del	ENSP00000365803.2:p.Lys161AsnfsTer23
ENST00000539743.5:c.483del	ENSP00000446108.1:p.Lys161AsnfsTer23
ENST00000540367.5:c.483del	ENSP00000439084.1:p.Lys161AsnfsTer23
NM_001031847.2:c.483del	NP_001027017.1:p.Lys161AsnfsTer23
NM_001876.3:c.483del	NP_001867.2:p.Lys161AsnfsTer23
XM_005273762.1:c.579del	XP_005273819.1:p.Lys193AsnfsTer23
XM_005273763.1:c.579del	XP_005273820.1:p.Lys193AsnfsTer23
XM_005273762.3:c.579del	XP_005273819.1:p.Lys193AsnfsTer23
XM_017017220.1:c.483del	XP_016872709.1:p.Lys161AsnfsTer23
NM_001876.4:c.483del MANE Select	NP_001867.2:p.Lys161AsnfsTer23
NM_001031847.3:c.483del	NP_001027017.1:p.Lys161AsnfsTer23